Canonical Allele Identifier: CA5293695

Gene: POMT1

Linked Data

• ClinVar Variation Id: 379163
• ClinVar RCV Id: RCV000731140 ; RCV001487542 ; RCV004539791
• dbSNP Id: rs139415150
• ExAC: 9:134394301 C / T
• gnomAD v2: 9-134394301-C-T
• gnomAD v3: 9-131518914-C-T
• gnomAD v4: 9-131518914-C-T
• MyVariant Identifiers: chr9:g.134394301C>T (hg19) ; chr9:g.131518914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518914C>T , CM000671.2:g.131518914C>T	GRCh38
NC_000009.11:g.134394301C>T , CM000671.1:g.134394301C>T	GRCh37
NC_000009.10:g.133384122C>T	NCBI36
NG_008896.1:g.21013C>T
NG_008896.2:g.21013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1281C>T	ENSP00000343034.7:p.His427=
ENST00000404875.7:n.1983C>T
ENST00000423007.6:c.1500C>T	ENSP00000404119.2:p.His500=
ENST00000677295.2:c.*1787C>T	ENSP00000504346.2:n.*1787C>T
ENST00000678264.2:c.*1626C>T	ENSP00000503157.2:n.*1626C>T
ENST00000682070.1:n.1908C>T
ENST00000682539.1:c.381C>T
ENST00000682813.1:n.1847C>T
ENST00000683392.1:n.4190C>T
ENST00000683712.1:n.1848C>T
ENST00000683900.1:n.3343C>T
ENST00000684062.1:n.2109C>T
ENST00000684579.1:n.3289C>T
ENST00000684679.1:n.670C>T
ENST00000341012.12:c.1281C>T	ENSP00000343034.7:p.His427=
ENST00000372220.5:c.312C>T	ENSP00000361294.5:p.His104=
ENST00000372228.9:c.1509C>T	ENSP00000361302.3:p.His503=
ENST00000402686.8:c.1443C>T MANE Select	ENSP00000385797.4:p.His481=
ENST00000676640.1:c.1443C>T	ENSP00000503281.1:p.His481=
ENST00000676803.1:c.618C>T	ENSP00000503093.1:p.His206=
ENST00000676835.1:c.*658C>T	ENSP00000502911.1:n.*658C>T
ENST00000677029.1:c.987C>T	ENSP00000502936.1:p.His329=
ENST00000677099.1:c.*1153C>T	ENSP00000504553.1:n.*1153C>T
ENST00000677216.1:c.1092C>T	ENSP00000503772.1:p.His364=
ENST00000677221.1:n.468C>T
ENST00000677295.1:c.*820C>T	ENSP00000504346.1:n.*820C>T
ENST00000677444.1:c.1388C>T
ENST00000677586.1:n.924C>T
ENST00000677626.1:c.1092C>T	ENSP00000503552.1:p.His364=
ENST00000677677.1:n.1403C>T
ENST00000677853.1:c.*451C>T	ENSP00000503488.1:n.*451C>T
ENST00000678202.1:n.602C>T
ENST00000678264.1:c.*820C>T	ENSP00000503157.1:n.*820C>T
ENST00000678303.1:c.1353C>T	ENSP00000503696.1:p.His451=
ENST00000678366.1:c.*1692C>T	ENSP00000504353.1:n.*1692C>T
ENST00000678546.1:c.*1388C>T	ENSP00000503062.1:n.*1388C>T
ENST00000678548.1:c.*1515C>T	ENSP00000503934.1:n.*1515C>T
ENST00000678626.1:n.1279C>T
ENST00000678733.1:c.524C>T
ENST00000678739.1:c.*1769C>T	ENSP00000503806.1:n.*1769C>T
ENST00000678833.1:c.*890C>T	ENSP00000503893.1:n.*890C>T
ENST00000679023.1:c.1281C>T	ENSP00000503718.1:p.His427=
ENST00000679076.1:c.1062C>T
ENST00000679111.1:c.*199C>T	ENSP00000504257.1:n.*199C>T
ENST00000679189.1:c.1092C>T	ENSP00000503356.1:p.His364=
ENST00000341012.11:c.1281C>T	ENSP00000343034.7:p.His427=
ENST00000372220.4:c.306C>T	ENSP00000361294.4:p.His102=
ENST00000372228.7:c.1509C>T	ENSP00000361302.3:p.His503=
ENST00000402686.7:c.1443C>T	ENSP00000385797.3:p.His481=
ENST00000404875.6:c.1092C>T	ENSP00000384531.2:p.His364=
ENST00000423007.5:c.1443C>T	ENSP00000404119.1:p.His481=
ENST00000467848.1:n.147C>T
ENST00000485278.5:n.1998C>T
NM_001077365.1:c.1443C>T	NP_001070833.1:p.His481=
NM_001077366.1:c.1281C>T	NP_001070834.1:p.His427=
NM_001136113.1:c.1443C>T	NP_001129585.1:p.His481=
NM_001136114.1:c.1092C>T	NP_001129586.1:p.His364=
NM_007171.3:c.1509C>T	NP_009102.3:p.His503=
XM_005272156.1:c.1509C>T	XP_005272213.1:p.His503=
XM_005272158.1:c.1347C>T	XP_005272215.1:p.His449=
XM_005272159.1:c.1158C>T	XP_005272216.1:p.His386=
XM_005272162.1:c.312C>T	XP_005272219.1:p.His104=
XM_006716932.1:c.1158C>T	XP_006716995.1:p.His386=
XM_011518140.1:c.1362C>T	XP_011516442.1:p.His454=
XM_011518141.1:c.1296C>T	XP_011516443.1:p.His432=
XM_011518142.1:c.1200C>T	XP_011516444.1:p.His400=
XM_011518143.1:c.1194C>T	XP_011516445.1:p.His398=
XM_011518145.1:c.1053C>T	XP_011516447.1:p.His351=
XM_011518147.1:c.381C>T	XP_011516449.1:p.His127=
XR_929703.1:n.1685C>T
NM_001353193.1:c.1509C>T	NP_001340122.1:p.His503=
NM_001353194.1:c.1281C>T	NP_001340123.1:p.His427=
NM_001353195.1:c.1092C>T	NP_001340124.1:p.His364=
NM_001353196.1:c.1353C>T	NP_001340125.1:p.His451=
NM_001353197.1:c.1347C>T	NP_001340126.1:p.His449=
NM_001353198.1:c.1347C>T	NP_001340127.1:p.His449=
NM_001353199.1:c.1158C>T	NP_001340128.1:p.His386=
NM_001353200.1:c.987C>T	NP_001340129.1:p.His329=
NR_148391.1:n.1493C>T
NR_148392.1:n.1711C>T
NR_148393.1:n.1632C>T
NR_148394.1:n.1386C>T
NR_148395.1:n.1784C>T
NR_148396.1:n.1418C>T
NR_148397.1:n.1543C>T
NR_148398.1:n.1498C>T
NR_148399.1:n.2024C>T
NR_148400.1:n.1623C>T
XM_005272162.3:c.312C>T	XP_005272219.1:p.His104=
XM_006716932.2:c.1158C>T	XP_006716995.1:p.His386=
XM_011518140.2:c.1362C>T	XP_011516442.1:p.His454=
XM_011518141.2:c.1296C>T	XP_011516443.1:p.His432=
XM_011518142.2:c.1200C>T	XP_011516444.1:p.His400=
XM_011518143.2:c.1194C>T	XP_011516445.1:p.His398=
XM_011518145.2:c.1053C>T	XP_011516447.1:p.His351=
XM_017014205.2:c.312C>T	XP_016869694.1:p.His104=
XM_024447380.1:c.312C>T	XP_024303148.1:p.His104=
XM_024447381.1:c.618C>T	XP_024303149.1:p.His206=
XM_024447382.1:c.312C>T	XP_024303150.1:p.His104=
XR_001746160.2:n.1613C>T
XR_001746162.2:n.1818C>T
XR_001746164.1:n.1535C>T
XR_001746166.2:n.1830C>T
NM_001077365.2:c.1443C>T MANE Select	NP_001070833.1:p.His481=
NM_001077366.2:c.1281C>T	NP_001070834.1:p.His427=
NM_001136113.2:c.1443C>T	NP_001129585.1:p.His481=
NM_001136114.2:c.1092C>T	NP_001129586.1:p.His364=
NM_001353193.2:c.1509C>T	NP_001340122.2:p.His503=
NM_001353194.2:c.1281C>T	NP_001340123.1:p.His427=
NM_001353195.2:c.1092C>T	NP_001340124.1:p.His364=
NM_001353196.2:c.1353C>T	NP_001340125.1:p.His451=
NM_001353197.2:c.1347C>T	NP_001340126.2:p.His449=
NM_001353198.2:c.1347C>T	NP_001340127.2:p.His449=
NM_001353199.2:c.1158C>T	NP_001340128.2:p.His386=
NM_001353200.2:c.987C>T	NP_001340129.1:p.His329=
NM_001374689.1:c.1431C>T	NP_001361618.1:p.His477=
NM_001374690.1:c.1365+377C>T	NP_001361619.1:n.1365+377C>T
NM_001374691.1:c.1092C>T	NP_001361620.1:p.His364=
NM_001374692.1:c.1092C>T	NP_001361621.1:p.His364=
NM_001374693.1:c.1092C>T	NP_001361622.1:p.His364=
NM_001374695.1:c.1053C>T	NP_001361624.1:p.His351=
NM_007171.4:c.1509C>T	NP_009102.4:p.His503=
NR_148391.2:n.1477C>T
NR_148392.2:n.1695C>T
NR_148393.2:n.1616C>T
NR_148394.2:n.1370C>T
NR_148395.2:n.1768C>T
NR_148396.2:n.1402C>T
NR_148397.2:n.1527C>T
NR_148398.2:n.1482C>T
NR_148399.2:n.2008C>T
NR_148400.2:n.1607C>T