Canonical Allele Identifier: CA375315208

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2153859
• ClinVar RCV Id: RCV003077828
• dbSNP Id: rs1175778280
• gnomAD v2: 9-134398404-C-T
• gnomAD v4: 9-131523017-C-T
• MyVariant Identifiers: chr9:g.134398404C>T (hg19) ; chr9:g.131523017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523017C>T , CM000671.2:g.131523017C>T	GRCh38
NC_000009.11:g.134398404C>T , CM000671.1:g.134398404C>T	GRCh37
NC_000009.10:g.133388225C>T	NCBI36
NG_008896.1:g.25116C>T
NG_008896.2:g.25116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1927C>T	ENSP00000343034.7:p.Leu643Phe
ENST00000404875.7:n.2629C>T
ENST00000423007.6:c.2146C>T	ENSP00000404119.2:p.Leu716Phe
ENST00000677295.2:c.*2433C>T	ENSP00000504346.2:n.*2433C>T
ENST00000678264.2:c.*2272C>T	ENSP00000503157.2:n.*2272C>T
ENST00000682070.1:n.2399C>T
ENST00000682639.1:c.86C>T
ENST00000682813.1:n.2486C>T
ENST00000683231.1:c.86C>T
ENST00000683392.1:n.4681C>T
ENST00000683712.1:n.2494C>T
ENST00000683900.1:n.3989C>T
ENST00000684062.1:n.2755C>T
ENST00000684399.1:c.86C>T
ENST00000684579.1:n.3935C>T
ENST00000341012.12:c.1927C>T	ENSP00000343034.7:p.Leu643Phe
ENST00000372220.5:c.958C>T	ENSP00000361294.5:p.Leu320Phe
ENST00000372228.9:c.2155C>T	ENSP00000361302.3:p.Leu719Phe
ENST00000402686.8:c.2089C>T MANE Select	ENSP00000385797.4:p.Leu697Phe
ENST00000676640.1:c.2089C>T	ENSP00000503281.1:p.Leu697Phe
ENST00000676803.1:c.1150C>T	ENSP00000503093.1:p.Leu384Phe
ENST00000676835.1:c.*1304C>T	ENSP00000502911.1:n.*1304C>T
ENST00000677029.1:c.1633C>T	ENSP00000502936.1:p.Leu545Phe
ENST00000677099.1:c.*1799C>T	ENSP00000504553.1:n.*1799C>T
ENST00000677216.1:c.1738C>T	ENSP00000503772.1:p.Leu580Phe
ENST00000677221.1:n.1114C>T
ENST00000677295.1:c.*1311C>T	ENSP00000504346.1:n.*1311C>T
ENST00000677444.1:c.2034C>T
ENST00000677586.1:n.1456C>T
ENST00000677626.1:c.1738C>T	ENSP00000503552.1:p.Leu580Phe
ENST00000677853.1:c.*1097C>T	ENSP00000503488.1:n.*1097C>T
ENST00000678264.1:c.*1466C>T	ENSP00000503157.1:n.*1466C>T
ENST00000678303.1:c.1999C>T	ENSP00000503696.1:p.Leu667Phe
ENST00000678366.1:c.*2338C>T	ENSP00000504353.1:n.*2338C>T
ENST00000678546.1:c.*2034C>T	ENSP00000503062.1:n.*2034C>T
ENST00000678548.1:c.*2228C>T	ENSP00000503934.1:n.*2228C>T
ENST00000678626.1:n.1925C>T
ENST00000678739.1:c.*2255C>T	ENSP00000503806.1:n.*2255C>T
ENST00000678833.1:c.*1841C>T	ENSP00000503893.1:n.*1841C>T
ENST00000679023.1:c.1927C>T	ENSP00000503718.1:p.Leu643Phe
ENST00000679076.1:c.1708C>T
ENST00000679111.1:c.*845C>T	ENSP00000504257.1:n.*845C>T
ENST00000679189.1:c.1738C>T	ENSP00000503356.1:p.Leu580Phe
ENST00000341012.11:c.1927C>T	ENSP00000343034.7:p.Leu643Phe
ENST00000372220.4:c.952C>T	ENSP00000361294.4:p.Leu318Phe
ENST00000372228.7:c.2155C>T	ENSP00000361302.3:p.Leu719Phe
ENST00000402686.7:c.2089C>T	ENSP00000385797.3:p.Leu697Phe
ENST00000404875.6:c.1738C>T	ENSP00000384531.2:p.Leu580Phe
ENST00000423007.5:c.2089C>T	ENSP00000404119.1:p.Leu697Phe
ENST00000485278.5:n.2639C>T
NM_001077365.1:c.2089C>T	NP_001070833.1:p.Leu697Phe
NM_001077366.1:c.1927C>T	NP_001070834.1:p.Leu643Phe
NM_001136113.1:c.2089C>T	NP_001129585.1:p.Leu697Phe
NM_001136114.1:c.1738C>T	NP_001129586.1:p.Leu580Phe
NM_007171.3:c.2155C>T	NP_009102.3:p.Leu719Phe
XM_005272156.1:c.2155C>T	XP_005272213.1:p.Leu719Phe
XM_005272158.1:c.1993C>T	XP_005272215.1:p.Leu665Phe
XM_005272159.1:c.1804C>T	XP_005272216.1:p.Leu602Phe
XM_005272162.1:c.958C>T	XP_005272219.1:p.Leu320Phe
XM_006716932.1:c.1804C>T	XP_006716995.1:p.Leu602Phe
XM_011518140.1:c.2008C>T	XP_011516442.1:p.Leu670Phe
XM_011518141.1:c.1942C>T	XP_011516443.1:p.Leu648Phe
XM_011518142.1:c.1846C>T	XP_011516444.1:p.Leu616Phe
XM_011518143.1:c.1840C>T	XP_011516445.1:p.Leu614Phe
XM_011518145.1:c.1699C>T	XP_011516447.1:p.Leu567Phe
XM_011518147.1:c.1027C>T	XP_011516449.1:p.Leu343Phe
XR_929703.1:n.2331C>T
NM_001353193.1:c.2155C>T	NP_001340122.1:p.Leu719Phe
NM_001353194.1:c.1927C>T	NP_001340123.1:p.Leu643Phe
NM_001353195.1:c.1738C>T	NP_001340124.1:p.Leu580Phe
NM_001353196.1:c.1999C>T	NP_001340125.1:p.Leu667Phe
NM_001353197.1:c.1993C>T	NP_001340126.1:p.Leu665Phe
NM_001353198.1:c.1993C>T	NP_001340127.1:p.Leu665Phe
NM_001353199.1:c.1804C>T	NP_001340128.1:p.Leu602Phe
NM_001353200.1:c.1633C>T	NP_001340129.1:p.Leu545Phe
NR_148391.1:n.2139C>T
NR_148392.1:n.2357C>T
NR_148393.1:n.2278C>T
NR_148394.1:n.2032C>T
NR_148395.1:n.2430C>T
NR_148396.1:n.2064C>T
NR_148397.1:n.2189C>T
NR_148398.1:n.2144C>T
NR_148399.1:n.2670C>T
NR_148400.1:n.2269C>T
XM_005272162.3:c.958C>T	XP_005272219.1:p.Leu320Phe
XM_006716932.2:c.1804C>T	XP_006716995.1:p.Leu602Phe
XM_011518140.2:c.2008C>T	XP_011516442.1:p.Leu670Phe
XM_011518141.2:c.1942C>T	XP_011516443.1:p.Leu648Phe
XM_011518142.2:c.1846C>T	XP_011516444.1:p.Leu616Phe
XM_011518143.2:c.1840C>T	XP_011516445.1:p.Leu614Phe
XM_011518145.2:c.1699C>T	XP_011516447.1:p.Leu567Phe
XM_017014205.2:c.958C>T	XP_016869694.1:p.Leu320Phe
XM_024447380.1:c.958C>T	XP_024303148.1:p.Leu320Phe
XM_024447381.1:c.1264C>T	XP_024303149.1:p.Leu422Phe
XM_024447382.1:c.958C>T	XP_024303150.1:p.Leu320Phe
XR_001746160.2:n.2259C>T
XR_001746162.2:n.2464C>T
XR_001746164.1:n.2181C>T
XR_001746166.2:n.2476C>T
NM_001077365.2:c.2089C>T MANE Select	NP_001070833.1:p.Leu697Phe
NM_001077366.2:c.1927C>T	NP_001070834.1:p.Leu643Phe
NM_001136113.2:c.2089C>T	NP_001129585.1:p.Leu697Phe
NM_001136114.2:c.1738C>T	NP_001129586.1:p.Leu580Phe
NM_001353193.2:c.2155C>T	NP_001340122.2:p.Leu719Phe
NM_001353194.2:c.1927C>T	NP_001340123.1:p.Leu643Phe
NM_001353195.2:c.1738C>T	NP_001340124.1:p.Leu580Phe
NM_001353196.2:c.1999C>T	NP_001340125.1:p.Leu667Phe
NM_001353197.2:c.1993C>T	NP_001340126.2:p.Leu665Phe
NM_001353198.2:c.1993C>T	NP_001340127.2:p.Leu665Phe
NM_001353199.2:c.1804C>T	NP_001340128.2:p.Leu602Phe
NM_001353200.2:c.1633C>T	NP_001340129.1:p.Leu545Phe
NM_001374689.1:c.2077C>T	NP_001361618.1:p.Leu693Phe
NM_001374690.1:c.1870C>T	NP_001361619.1:p.Leu624Phe
NM_001374691.1:c.1738C>T	NP_001361620.1:p.Leu580Phe
NM_001374692.1:c.1738C>T	NP_001361621.1:p.Leu580Phe
NM_001374693.1:c.1738C>T	NP_001361622.1:p.Leu580Phe
NM_001374695.1:c.1699C>T	NP_001361624.1:p.Leu567Phe
NM_007171.4:c.2155C>T	NP_009102.4:p.Leu719Phe
NR_148391.2:n.2123C>T
NR_148392.2:n.2341C>T
NR_148393.2:n.2262C>T
NR_148394.2:n.2016C>T
NR_148395.2:n.2414C>T
NR_148396.2:n.2048C>T
NR_148397.2:n.2173C>T
NR_148398.2:n.2128C>T
NR_148399.2:n.2654C>T
NR_148400.2:n.2253C>T