Canonical Allele Identifier: CA375308476

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1505218
• ClinVar RCV Id: RCV002047990
• dbSNP Id: rs1415622281
• gnomAD v2: 9-134386776-C-T
• gnomAD v3: 9-131511389-C-T
• gnomAD v4: 9-131511389-C-T
• MyVariant Identifiers: chr9:g.134386776C>T (hg19) ; chr9:g.131511389C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511389C>T , CM000671.2:g.131511389C>T	GRCh38
NC_000009.11:g.134386776C>T , CM000671.1:g.134386776C>T	GRCh37
NC_000009.10:g.133376597C>T	NCBI36
NG_008896.1:g.13488C>T
NG_008896.2:g.13488C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.746C>T	ENSP00000343034.7:p.Ser249Phe
ENST00000404875.7:n.1280C>T
ENST00000423007.6:c.965C>T	ENSP00000404119.2:p.Ser322Phe
ENST00000677295.2:c.*1247C>T	ENSP00000504346.2:n.*1247C>T
ENST00000678264.2:c.*1091C>T	ENSP00000503157.2:n.*1091C>T
ENST00000678942.2:c.*461C>T	ENSP00000504690.2:n.*461C>T
ENST00000682070.1:n.1368C>T
ENST00000682813.1:n.1173C>T
ENST00000683134.1:c.275C>T
ENST00000683392.1:n.3655C>T
ENST00000683712.1:n.1308C>T
ENST00000683900.1:n.2235C>T
ENST00000684062.1:n.1574C>T
ENST00000684579.1:n.2749C>T
ENST00000341012.12:c.746C>T	ENSP00000343034.7:p.Ser249Phe
ENST00000372220.5:c.-145-652C>T	ENSP00000361294.5:n.-145-652C>T
ENST00000372228.9:c.974C>T	ENSP00000361302.3:p.Ser325Phe
ENST00000402686.8:c.908C>T MANE Select	ENSP00000385797.4:p.Ser303Phe
ENST00000415075.6:c.*361C>T	ENSP00000405149.2:n.*361C>T
ENST00000676640.1:c.908C>T	ENSP00000503281.1:p.Ser303Phe
ENST00000676803.1:c.83C>T	ENSP00000503093.1:p.Ser28Phe
ENST00000676835.1:c.*118C>T	ENSP00000502911.1:n.*118C>T
ENST00000677029.1:c.452C>T	ENSP00000502936.1:p.Ser151Phe
ENST00000677099.1:c.*618C>T	ENSP00000504553.1:n.*618C>T
ENST00000677216.1:c.557C>T	ENSP00000503772.1:p.Ser186Phe
ENST00000677293.1:c.83C>T	ENSP00000504278.1:p.Ser28Phe
ENST00000677295.1:c.*280C>T	ENSP00000504346.1:n.*280C>T
ENST00000677444.1:c.714C>T
ENST00000677586.1:n.389C>T
ENST00000677626.1:c.746C>T	ENSP00000503552.1:p.Ser249Phe
ENST00000677677.1:n.868C>T
ENST00000677853.1:c.489C>T	ENSP00000503488.1:p.Val163=
ENST00000677944.1:c.170C>T
ENST00000678264.1:c.*280C>T	ENSP00000503157.1:n.*280C>T
ENST00000678303.1:c.818C>T	ENSP00000503696.1:p.Ser273Phe
ENST00000678366.1:c.*1157C>T	ENSP00000504353.1:n.*1157C>T
ENST00000678546.1:c.*280C>T	ENSP00000503062.1:n.*280C>T
ENST00000678548.1:c.*975C>T	ENSP00000503934.1:n.*975C>T
ENST00000678626.1:n.600C>T
ENST00000678707.1:n.546C>T
ENST00000678733.1:c.82C>T
ENST00000678739.1:c.*1229C>T	ENSP00000503806.1:n.*1229C>T
ENST00000678833.1:c.*355C>T	ENSP00000503893.1:n.*355C>T
ENST00000678942.1:c.83C>T	ENSP00000504690.1:p.Ser28Phe
ENST00000679023.1:c.746C>T	ENSP00000503718.1:p.Ser249Phe
ENST00000679073.1:c.286C>T	ENSP00000504356.1:n.286C>T
ENST00000679076.1:c.522C>T
ENST00000679111.1:c.908C>T	ENSP00000504257.1:p.Ser303Phe
ENST00000679189.1:c.557C>T	ENSP00000503356.1:p.Ser186Phe
ENST00000341012.11:c.746C>T	ENSP00000343034.7:p.Ser249Phe
ENST00000372228.7:c.974C>T	ENSP00000361302.3:p.Ser325Phe
ENST00000402686.7:c.908C>T	ENSP00000385797.3:p.Ser303Phe
ENST00000404875.6:c.557C>T	ENSP00000384531.2:p.Ser186Phe
ENST00000415075.5:c.300C>T	ENSP00000405149.1:p.Val100=
ENST00000423007.5:c.908C>T	ENSP00000404119.1:p.Ser303Phe
ENST00000441334.5:c.623C>T	ENSP00000395060.1:p.Ser208Phe
ENST00000462375.5:n.729C>T
ENST00000485278.5:n.890C>T
NM_001077365.1:c.908C>T	NP_001070833.1:p.Ser303Phe
NM_001077366.1:c.746C>T	NP_001070834.1:p.Ser249Phe
NM_001136113.1:c.908C>T	NP_001129585.1:p.Ser303Phe
NM_001136114.1:c.557C>T	NP_001129586.1:p.Ser186Phe
NM_007171.3:c.974C>T	NP_009102.3:p.Ser325Phe
XM_005272156.1:c.974C>T	XP_005272213.1:p.Ser325Phe
XM_005272158.1:c.812C>T	XP_005272215.1:p.Ser271Phe
XM_005272159.1:c.623C>T	XP_005272216.1:p.Ser208Phe
XM_005272162.1:c.-229C>T	XP_005272219.1:n.-229C>T
XM_006716932.1:c.623C>T	XP_006716995.1:p.Ser208Phe
XM_011518140.1:c.827C>T	XP_011516442.1:p.Ser276Phe
XM_011518141.1:c.761C>T	XP_011516443.1:p.Ser254Phe
XM_011518142.1:c.665C>T	XP_011516444.1:p.Ser222Phe
XM_011518143.1:c.654C>T	XP_011516445.1:p.Val218=
XM_011518144.1:c.974C>T	XP_011516446.1:p.Ser325Phe
XM_011518145.1:c.518C>T	XP_011516447.1:p.Ser173Phe
XM_011518146.1:c.654C>T	XP_011516448.1:p.Val218=
XR_929703.1:n.1150C>T
NM_001353193.1:c.974C>T	NP_001340122.1:p.Ser325Phe
NM_001353194.1:c.746C>T	NP_001340123.1:p.Ser249Phe
NM_001353195.1:c.557C>T	NP_001340124.1:p.Ser186Phe
NM_001353196.1:c.818C>T	NP_001340125.1:p.Ser273Phe
NM_001353197.1:c.812C>T	NP_001340126.1:p.Ser271Phe
NM_001353198.1:c.812C>T	NP_001340127.1:p.Ser271Phe
NM_001353199.1:c.623C>T	NP_001340128.1:p.Ser208Phe
NM_001353200.1:c.452C>T	NP_001340129.1:p.Ser151Phe
NR_148391.1:n.958C>T
NR_148392.1:n.1176C>T
NR_148393.1:n.958C>T
NR_148394.1:n.846C>T
NR_148395.1:n.1110C>T
NR_148396.1:n.739C>T
NR_148397.1:n.1003C>T
NR_148398.1:n.958C>T
NR_148399.1:n.1350C>T
NR_148400.1:n.944C>T
XM_005272162.3:c.-229C>T	XP_005272219.1:n.-229C>T
XM_006716932.2:c.623C>T	XP_006716995.1:p.Ser208Phe
XM_011518140.2:c.827C>T	XP_011516442.1:p.Ser276Phe
XM_011518141.2:c.761C>T	XP_011516443.1:p.Ser254Phe
XM_011518142.2:c.665C>T	XP_011516444.1:p.Ser222Phe
XM_011518143.2:c.654C>T	XP_011516445.1:p.Val218=
XM_011518145.2:c.518C>T	XP_011516447.1:p.Ser173Phe
XM_017014205.2:c.-229C>T	XP_016869694.1:n.-229C>T
XM_024447380.1:c.-229C>T	XP_024303148.1:n.-229C>T
XM_024447381.1:c.83C>T	XP_024303149.1:p.Ser28Phe
XM_024447382.1:c.-229C>T	XP_024303150.1:n.-229C>T
XR_001746160.2:n.1078C>T
XR_001746162.2:n.1144C>T
XR_001746164.1:n.856C>T
XR_001746166.2:n.1295C>T
NM_001077365.2:c.908C>T MANE Select	NP_001070833.1:p.Ser303Phe
NM_001077366.2:c.746C>T	NP_001070834.1:p.Ser249Phe
NM_001136113.2:c.908C>T	NP_001129585.1:p.Ser303Phe
NM_001136114.2:c.557C>T	NP_001129586.1:p.Ser186Phe
NM_001353193.2:c.974C>T	NP_001340122.2:p.Ser325Phe
NM_001353194.2:c.746C>T	NP_001340123.1:p.Ser249Phe
NM_001353195.2:c.557C>T	NP_001340124.1:p.Ser186Phe
NM_001353196.2:c.818C>T	NP_001340125.1:p.Ser273Phe
NM_001353197.2:c.812C>T	NP_001340126.2:p.Ser271Phe
NM_001353198.2:c.812C>T	NP_001340127.2:p.Ser271Phe
NM_001353199.2:c.623C>T	NP_001340128.2:p.Ser208Phe
NM_001353200.2:c.452C>T	NP_001340129.1:p.Ser151Phe
NM_001374689.1:c.891C>T	NP_001361618.1:p.Val297=
NM_001374690.1:c.908C>T	NP_001361619.1:p.Ser303Phe
NM_001374691.1:c.557C>T	NP_001361620.1:p.Ser186Phe
NM_001374692.1:c.557C>T	NP_001361621.1:p.Ser186Phe
NM_001374693.1:c.746C>T	NP_001361622.1:p.Ser249Phe
NM_001374695.1:c.518C>T	NP_001361624.1:p.Ser173Phe
NM_007171.4:c.974C>T	NP_009102.4:p.Ser325Phe
NR_148391.2:n.942C>T
NR_148392.2:n.1160C>T
NR_148393.2:n.942C>T
NR_148394.2:n.830C>T
NR_148395.2:n.1094C>T
NR_148396.2:n.723C>T
NR_148397.2:n.987C>T
NR_148398.2:n.942C>T
NR_148399.2:n.1334C>T
NR_148400.2:n.928C>T