Canonical Allele Identifier: CA5293658

Gene: POMT1

Linked Data

• ClinVar Variation Id: 538722
• ClinVar RCV Id: RCV000648158 ; RCV000733057 ; RCV003983156
• dbSNP Id: rs752384050
• ExAC: 9:134393889 C / T
• gnomAD v2: 9-134393889-C-T
• gnomAD v3: 9-131518502-C-T
• gnomAD v4: 9-131518502-C-T
• MyVariant Identifiers: chr9:g.134393889C>T (hg19) ; chr9:g.131518502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518502C>T , CM000671.2:g.131518502C>T	GRCh38
NC_000009.11:g.134393889C>T , CM000671.1:g.134393889C>T	GRCh37
NC_000009.10:g.133383710C>T	NCBI36
NG_008896.1:g.20601C>T
NG_008896.2:g.20601C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1168C>T	ENSP00000343034.7:p.Arg390Cys
ENST00000404875.7:n.1870C>T
ENST00000423007.6:c.1387C>T	ENSP00000404119.2:p.Arg463Cys
ENST00000677295.2:c.*1674C>T	ENSP00000504346.2:n.*1674C>T
ENST00000678264.2:c.*1513C>T	ENSP00000503157.2:n.*1513C>T
ENST00000682070.1:n.1795C>T
ENST00000682535.1:n.102C>T
ENST00000682539.1:c.268C>T
ENST00000682813.1:n.1595C>T
ENST00000683110.1:n.58C>T
ENST00000683392.1:n.4077C>T
ENST00000683712.1:n.1735C>T
ENST00000683900.1:n.3230C>T
ENST00000684062.1:n.1996C>T
ENST00000684579.1:n.3176C>T
ENST00000684679.1:n.557C>T
ENST00000341012.12:c.1168C>T	ENSP00000343034.7:p.Arg390Cys
ENST00000372220.5:c.199C>T	ENSP00000361294.5:p.Arg67Cys
ENST00000372228.9:c.1396C>T	ENSP00000361302.3:p.Arg466Cys
ENST00000402686.8:c.1330C>T MANE Select	ENSP00000385797.4:p.Arg444Cys
ENST00000676640.1:c.1330C>T	ENSP00000503281.1:p.Arg444Cys
ENST00000676803.1:c.505C>T	ENSP00000503093.1:p.Arg169Cys
ENST00000676835.1:c.*545C>T	ENSP00000502911.1:n.*545C>T
ENST00000677029.1:c.874C>T	ENSP00000502936.1:p.Arg292Cys
ENST00000677099.1:c.*1040C>T	ENSP00000504553.1:n.*1040C>T
ENST00000677216.1:c.979C>T	ENSP00000503772.1:p.Arg327Cys
ENST00000677221.1:n.355C>T
ENST00000677295.1:c.*707C>T	ENSP00000504346.1:n.*707C>T
ENST00000677444.1:c.1136C>T
ENST00000677586.1:n.811C>T
ENST00000677626.1:c.979C>T	ENSP00000503552.1:p.Arg327Cys
ENST00000677677.1:n.1290C>T
ENST00000677853.1:c.*338C>T	ENSP00000503488.1:n.*338C>T
ENST00000677983.1:n.419C>T
ENST00000678202.1:n.350C>T
ENST00000678264.1:c.*707C>T	ENSP00000503157.1:n.*707C>T
ENST00000678303.1:c.1240C>T	ENSP00000503696.1:p.Arg414Cys
ENST00000678366.1:c.*1579C>T	ENSP00000504353.1:n.*1579C>T
ENST00000678546.1:c.*1275C>T	ENSP00000503062.1:n.*1275C>T
ENST00000678548.1:c.*1402C>T	ENSP00000503934.1:n.*1402C>T
ENST00000678626.1:n.1027C>T
ENST00000678733.1:c.411C>T
ENST00000678739.1:c.*1656C>T	ENSP00000503806.1:n.*1656C>T
ENST00000678795.1:n.417C>T
ENST00000678833.1:c.*777C>T	ENSP00000503893.1:n.*777C>T
ENST00000678942.1:c.510C>T	ENSP00000504690.1:n.510C>T
ENST00000679023.1:c.1168C>T	ENSP00000503718.1:p.Arg390Cys
ENST00000679076.1:c.949C>T
ENST00000679111.1:c.1330C>T	ENSP00000504257.1:p.Arg444Cys
ENST00000679189.1:c.979C>T	ENSP00000503356.1:p.Arg327Cys
ENST00000341012.11:c.1168C>T	ENSP00000343034.7:p.Arg390Cys
ENST00000372220.4:c.193C>T	ENSP00000361294.4:p.Arg65Cys
ENST00000372228.7:c.1396C>T	ENSP00000361302.3:p.Arg466Cys
ENST00000402686.7:c.1330C>T	ENSP00000385797.3:p.Arg444Cys
ENST00000404875.6:c.979C>T	ENSP00000384531.2:p.Arg327Cys
ENST00000423007.5:c.1330C>T	ENSP00000404119.1:p.Arg444Cys
ENST00000485278.5:n.1885C>T
NM_001077365.1:c.1330C>T	NP_001070833.1:p.Arg444Cys
NM_001077366.1:c.1168C>T	NP_001070834.1:p.Arg390Cys
NM_001136113.1:c.1330C>T	NP_001129585.1:p.Arg444Cys
NM_001136114.1:c.979C>T	NP_001129586.1:p.Arg327Cys
NM_007171.3:c.1396C>T	NP_009102.3:p.Arg466Cys
XM_005272156.1:c.1396C>T	XP_005272213.1:p.Arg466Cys
XM_005272158.1:c.1234C>T	XP_005272215.1:p.Arg412Cys
XM_005272159.1:c.1045C>T	XP_005272216.1:p.Arg349Cys
XM_005272162.1:c.199C>T	XP_005272219.1:p.Arg67Cys
XM_006716932.1:c.1045C>T	XP_006716995.1:p.Arg349Cys
XM_011518140.1:c.1249C>T	XP_011516442.1:p.Arg417Cys
XM_011518141.1:c.1183C>T	XP_011516443.1:p.Arg395Cys
XM_011518142.1:c.1087C>T	XP_011516444.1:p.Arg363Cys
XM_011518143.1:c.1081C>T	XP_011516445.1:p.Arg361Cys
XM_011518144.1:c.1396C>T	XP_011516446.1:p.Arg466Cys
XM_011518145.1:c.940C>T	XP_011516447.1:p.Arg314Cys
XM_011518146.1:c.1081C>T	XP_011516448.1:p.Arg361Cys
XM_011518147.1:c.268C>T	XP_011516449.1:p.Arg90Cys
XR_929703.1:n.1572C>T
NM_001353193.1:c.1396C>T	NP_001340122.1:p.Arg466Cys
NM_001353194.1:c.1168C>T	NP_001340123.1:p.Arg390Cys
NM_001353195.1:c.979C>T	NP_001340124.1:p.Arg327Cys
NM_001353196.1:c.1240C>T	NP_001340125.1:p.Arg414Cys
NM_001353197.1:c.1234C>T	NP_001340126.1:p.Arg412Cys
NM_001353198.1:c.1234C>T	NP_001340127.1:p.Arg412Cys
NM_001353199.1:c.1045C>T	NP_001340128.1:p.Arg349Cys
NM_001353200.1:c.874C>T	NP_001340129.1:p.Arg292Cys
NR_148391.1:n.1380C>T
NR_148392.1:n.1598C>T
NR_148393.1:n.1380C>T
NR_148394.1:n.1273C>T
NR_148395.1:n.1532C>T
NR_148396.1:n.1166C>T
NR_148397.1:n.1430C>T
NR_148398.1:n.1385C>T
NR_148399.1:n.1772C>T
NR_148400.1:n.1371C>T
XM_005272162.3:c.199C>T	XP_005272219.1:p.Arg67Cys
XM_006716932.2:c.1045C>T	XP_006716995.1:p.Arg349Cys
XM_011518140.2:c.1249C>T	XP_011516442.1:p.Arg417Cys
XM_011518141.2:c.1183C>T	XP_011516443.1:p.Arg395Cys
XM_011518142.2:c.1087C>T	XP_011516444.1:p.Arg363Cys
XM_011518143.2:c.1081C>T	XP_011516445.1:p.Arg361Cys
XM_011518145.2:c.940C>T	XP_011516447.1:p.Arg314Cys
XM_017014205.2:c.199C>T	XP_016869694.1:p.Arg67Cys
XM_024447380.1:c.199C>T	XP_024303148.1:p.Arg67Cys
XM_024447381.1:c.505C>T	XP_024303149.1:p.Arg169Cys
XM_024447382.1:c.199C>T	XP_024303150.1:p.Arg67Cys
XR_001746160.2:n.1500C>T
XR_001746162.2:n.1566C>T
XR_001746164.1:n.1283C>T
XR_001746166.2:n.1717C>T
NM_001077365.2:c.1330C>T MANE Select	NP_001070833.1:p.Arg444Cys
NM_001077366.2:c.1168C>T	NP_001070834.1:p.Arg390Cys
NM_001136113.2:c.1330C>T	NP_001129585.1:p.Arg444Cys
NM_001136114.2:c.979C>T	NP_001129586.1:p.Arg327Cys
NM_001353193.2:c.1396C>T	NP_001340122.2:p.Arg466Cys
NM_001353194.2:c.1168C>T	NP_001340123.1:p.Arg390Cys
NM_001353195.2:c.979C>T	NP_001340124.1:p.Arg327Cys
NM_001353196.2:c.1240C>T	NP_001340125.1:p.Arg414Cys
NM_001353197.2:c.1234C>T	NP_001340126.2:p.Arg412Cys
NM_001353198.2:c.1234C>T	NP_001340127.2:p.Arg412Cys
NM_001353199.2:c.1045C>T	NP_001340128.2:p.Arg349Cys
NM_001353200.2:c.874C>T	NP_001340129.1:p.Arg292Cys
NM_001374689.1:c.1318C>T	NP_001361618.1:p.Arg440Cys
NM_001374690.1:c.1330C>T	NP_001361619.1:p.Arg444Cys
NM_001374691.1:c.979C>T	NP_001361620.1:p.Arg327Cys
NM_001374692.1:c.979C>T	NP_001361621.1:p.Arg327Cys
NM_001374693.1:c.979C>T	NP_001361622.1:p.Arg327Cys
NM_001374695.1:c.940C>T	NP_001361624.1:p.Arg314Cys
NM_007171.4:c.1396C>T	NP_009102.4:p.Arg466Cys
NR_148391.2:n.1364C>T
NR_148392.2:n.1582C>T
NR_148393.2:n.1364C>T
NR_148394.2:n.1257C>T
NR_148395.2:n.1516C>T
NR_148396.2:n.1150C>T
NR_148397.2:n.1414C>T
NR_148398.2:n.1369C>T
NR_148399.2:n.1756C>T
NR_148400.2:n.1355C>T