Canonical Allele Identifier: CA375314598

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397563T>G (hg19) ; chr9:g.131522176T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522176T>G , CM000671.2:g.131522176T>G	GRCh38
NC_000009.11:g.134397563T>G , CM000671.1:g.134397563T>G	GRCh37
NC_000009.10:g.133387384T>G	NCBI36
NG_008896.1:g.24275T>G
NG_008896.2:g.24275T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1793T>G	ENSP00000343034.7:p.Ile598Ser
ENST00000404875.7:n.2495T>G
ENST00000423007.6:c.2012T>G	ENSP00000404119.2:p.Ile671Ser
ENST00000677295.2:c.*2299T>G	ENSP00000504346.2:n.*2299T>G
ENST00000678264.2:c.*2138T>G	ENSP00000503157.2:n.*2138T>G
ENST00000682070.1:n.2291-26T>G
ENST00000682813.1:n.2359T>G
ENST00000683392.1:n.4573-26T>G
ENST00000683712.1:n.2360T>G
ENST00000683900.1:n.3855T>G
ENST00000684062.1:n.2621T>G
ENST00000684579.1:n.3801T>G
ENST00000684679.1:n.1182T>G
ENST00000341012.12:c.1793T>G	ENSP00000343034.7:p.Ile598Ser
ENST00000372220.5:c.824T>G	ENSP00000361294.5:p.Ile275Ser
ENST00000372228.9:c.2021T>G	ENSP00000361302.3:p.Ile674Ser
ENST00000402686.8:c.1955T>G MANE Select	ENSP00000385797.4:p.Ile652Ser
ENST00000676640.1:c.1955T>G	ENSP00000503281.1:p.Ile652Ser
ENST00000676803.1:c.1016T>G	ENSP00000503093.1:p.Ile339Ser
ENST00000676835.1:c.*1170T>G	ENSP00000502911.1:n.*1170T>G
ENST00000677029.1:c.1499T>G	ENSP00000502936.1:p.Ile500Ser
ENST00000677099.1:c.*1665T>G	ENSP00000504553.1:n.*1665T>G
ENST00000677216.1:c.1604T>G	ENSP00000503772.1:p.Ile535Ser
ENST00000677221.1:n.980T>G
ENST00000677295.1:c.*1203-26T>G	ENSP00000504346.1:n.*1203-26T>G
ENST00000677444.1:c.1900T>G
ENST00000677586.1:n.1322T>G
ENST00000677626.1:c.1604T>G	ENSP00000503552.1:p.Ile535Ser
ENST00000677853.1:c.*963T>G	ENSP00000503488.1:n.*963T>G
ENST00000678202.1:n.1114T>G
ENST00000678264.1:c.*1332T>G	ENSP00000503157.1:n.*1332T>G
ENST00000678303.1:c.1865T>G	ENSP00000503696.1:p.Ile622Ser
ENST00000678366.1:c.*2204T>G	ENSP00000504353.1:n.*2204T>G
ENST00000678546.1:c.*1900T>G	ENSP00000503062.1:n.*1900T>G
ENST00000678548.1:c.*2094T>G	ENSP00000503934.1:n.*2094T>G
ENST00000678626.1:n.1791T>G
ENST00000678739.1:c.*2147-26T>G	ENSP00000503806.1:n.*2147-26T>G
ENST00000678833.1:c.*1707T>G	ENSP00000503893.1:n.*1707T>G
ENST00000679023.1:c.1793T>G	ENSP00000503718.1:p.Ile598Ser
ENST00000679076.1:c.1574T>G
ENST00000679111.1:c.*711T>G	ENSP00000504257.1:n.*711T>G
ENST00000679189.1:c.1604T>G	ENSP00000503356.1:p.Ile535Ser
ENST00000341012.11:c.1793T>G	ENSP00000343034.7:p.Ile598Ser
ENST00000372220.4:c.818T>G	ENSP00000361294.4:p.Ile273Ser
ENST00000372228.7:c.2021T>G	ENSP00000361302.3:p.Ile674Ser
ENST00000402686.7:c.1955T>G	ENSP00000385797.3:p.Ile652Ser
ENST00000404875.6:c.1604T>G	ENSP00000384531.2:p.Ile535Ser
ENST00000423007.5:c.1955T>G	ENSP00000404119.1:p.Ile652Ser
ENST00000485278.5:n.2505T>G
ENST00000494883.1:n.498T>G
NM_001077365.1:c.1955T>G	NP_001070833.1:p.Ile652Ser
NM_001077366.1:c.1793T>G	NP_001070834.1:p.Ile598Ser
NM_001136113.1:c.1955T>G	NP_001129585.1:p.Ile652Ser
NM_001136114.1:c.1604T>G	NP_001129586.1:p.Ile535Ser
NM_007171.3:c.2021T>G	NP_009102.3:p.Ile674Ser
XM_005272156.1:c.2021T>G	XP_005272213.1:p.Ile674Ser
XM_005272158.1:c.1859T>G	XP_005272215.1:p.Ile620Ser
XM_005272159.1:c.1670T>G	XP_005272216.1:p.Ile557Ser
XM_005272162.1:c.824T>G	XP_005272219.1:p.Ile275Ser
XM_006716932.1:c.1670T>G	XP_006716995.1:p.Ile557Ser
XM_011518140.1:c.1874T>G	XP_011516442.1:p.Ile625Ser
XM_011518141.1:c.1808T>G	XP_011516443.1:p.Ile603Ser
XM_011518142.1:c.1712T>G	XP_011516444.1:p.Ile571Ser
XM_011518143.1:c.1706T>G	XP_011516445.1:p.Ile569Ser
XM_011518145.1:c.1565T>G	XP_011516447.1:p.Ile522Ser
XM_011518147.1:c.893T>G	XP_011516449.1:p.Ile298Ser
XR_929703.1:n.2197T>G
NM_001353193.1:c.2021T>G	NP_001340122.1:p.Ile674Ser
NM_001353194.1:c.1793T>G	NP_001340123.1:p.Ile598Ser
NM_001353195.1:c.1604T>G	NP_001340124.1:p.Ile535Ser
NM_001353196.1:c.1865T>G	NP_001340125.1:p.Ile622Ser
NM_001353197.1:c.1859T>G	NP_001340126.1:p.Ile620Ser
NM_001353198.1:c.1859T>G	NP_001340127.1:p.Ile620Ser
NM_001353199.1:c.1670T>G	NP_001340128.1:p.Ile557Ser
NM_001353200.1:c.1499T>G	NP_001340129.1:p.Ile500Ser
NR_148391.1:n.2005T>G
NR_148392.1:n.2223T>G
NR_148393.1:n.2144T>G
NR_148394.1:n.1898T>G
NR_148395.1:n.2296T>G
NR_148396.1:n.1930T>G
NR_148397.1:n.2055T>G
NR_148398.1:n.2010T>G
NR_148399.1:n.2536T>G
NR_148400.1:n.2135T>G
XM_005272162.3:c.824T>G	XP_005272219.1:p.Ile275Ser
XM_006716932.2:c.1670T>G	XP_006716995.1:p.Ile557Ser
XM_011518140.2:c.1874T>G	XP_011516442.1:p.Ile625Ser
XM_011518141.2:c.1808T>G	XP_011516443.1:p.Ile603Ser
XM_011518142.2:c.1712T>G	XP_011516444.1:p.Ile571Ser
XM_011518143.2:c.1706T>G	XP_011516445.1:p.Ile569Ser
XM_011518145.2:c.1565T>G	XP_011516447.1:p.Ile522Ser
XM_017014205.2:c.824T>G	XP_016869694.1:p.Ile275Ser
XM_024447380.1:c.824T>G	XP_024303148.1:p.Ile275Ser
XM_024447381.1:c.1130T>G	XP_024303149.1:p.Ile377Ser
XM_024447382.1:c.824T>G	XP_024303150.1:p.Ile275Ser
XR_001746160.2:n.2125T>G
XR_001746162.2:n.2330T>G
XR_001746164.1:n.2047T>G
XR_001746166.2:n.2342T>G
NM_001077365.2:c.1955T>G MANE Select	NP_001070833.1:p.Ile652Ser
NM_001077366.2:c.1793T>G	NP_001070834.1:p.Ile598Ser
NM_001136113.2:c.1955T>G	NP_001129585.1:p.Ile652Ser
NM_001136114.2:c.1604T>G	NP_001129586.1:p.Ile535Ser
NM_001353193.2:c.2021T>G	NP_001340122.2:p.Ile674Ser
NM_001353194.2:c.1793T>G	NP_001340123.1:p.Ile598Ser
NM_001353195.2:c.1604T>G	NP_001340124.1:p.Ile535Ser
NM_001353196.2:c.1865T>G	NP_001340125.1:p.Ile622Ser
NM_001353197.2:c.1859T>G	NP_001340126.2:p.Ile620Ser
NM_001353198.2:c.1859T>G	NP_001340127.2:p.Ile620Ser
NM_001353199.2:c.1670T>G	NP_001340128.2:p.Ile557Ser
NM_001353200.2:c.1499T>G	NP_001340129.1:p.Ile500Ser
NM_001374689.1:c.1943T>G	NP_001361618.1:p.Ile648Ser
NM_001374690.1:c.1736T>G	NP_001361619.1:p.Ile579Ser
NM_001374691.1:c.1604T>G	NP_001361620.1:p.Ile535Ser
NM_001374692.1:c.1604T>G	NP_001361621.1:p.Ile535Ser
NM_001374693.1:c.1604T>G	NP_001361622.1:p.Ile535Ser
NM_001374695.1:c.1565T>G	NP_001361624.1:p.Ile522Ser
NM_007171.4:c.2021T>G	NP_009102.4:p.Ile674Ser
NR_148391.2:n.1989T>G
NR_148392.2:n.2207T>G
NR_148393.2:n.2128T>G
NR_148394.2:n.1882T>G
NR_148395.2:n.2280T>G
NR_148396.2:n.1914T>G
NR_148397.2:n.2039T>G
NR_148398.2:n.1994T>G
NR_148399.2:n.2520T>G
NR_148400.2:n.2119T>G