Canonical Allele Identifier: CA375313833

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396800C>T (hg19) ; chr9:g.131521413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521413C>T , CM000671.2:g.131521413C>T	GRCh38
NC_000009.11:g.134396800C>T , CM000671.1:g.134396800C>T	GRCh37
NC_000009.10:g.133386621C>T	NCBI36
NG_008896.1:g.23512C>T
NG_008896.2:g.23512C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1604C>T	ENSP00000343034.7:p.Ala535Val
ENST00000404875.7:n.2306C>T
ENST00000423007.6:c.1823C>T	ENSP00000404119.2:p.Ala608Val
ENST00000677295.2:c.*2110C>T	ENSP00000504346.2:n.*2110C>T
ENST00000678264.2:c.*1949C>T	ENSP00000503157.2:n.*1949C>T
ENST00000682070.1:n.2231C>T
ENST00000682813.1:n.2170C>T
ENST00000683392.1:n.4513C>T
ENST00000683712.1:n.2171C>T
ENST00000683900.1:n.3666C>T
ENST00000684062.1:n.2432C>T
ENST00000684579.1:n.3612C>T
ENST00000684679.1:n.993C>T
ENST00000341012.12:c.1604C>T	ENSP00000343034.7:p.Ala535Val
ENST00000372220.5:c.635C>T	ENSP00000361294.5:p.Ala212Val
ENST00000372228.9:c.1832C>T	ENSP00000361302.3:p.Ala611Val
ENST00000402686.8:c.1766C>T MANE Select	ENSP00000385797.4:p.Ala589Val
ENST00000676640.1:c.1766C>T	ENSP00000503281.1:p.Ala589Val
ENST00000676803.1:c.827C>T	ENSP00000503093.1:p.Ala276Val
ENST00000676835.1:c.*981C>T	ENSP00000502911.1:n.*981C>T
ENST00000677029.1:c.1310C>T	ENSP00000502936.1:p.Ala437Val
ENST00000677099.1:c.*1476C>T	ENSP00000504553.1:n.*1476C>T
ENST00000677216.1:c.1415C>T	ENSP00000503772.1:p.Ala472Val
ENST00000677221.1:n.791C>T
ENST00000677295.1:c.*1143C>T	ENSP00000504346.1:n.*1143C>T
ENST00000677444.1:c.1711C>T
ENST00000677586.1:n.1133C>T
ENST00000677626.1:c.1415C>T	ENSP00000503552.1:p.Ala472Val
ENST00000677853.1:c.*774C>T	ENSP00000503488.1:n.*774C>T
ENST00000678202.1:n.925C>T
ENST00000678264.1:c.*1143C>T	ENSP00000503157.1:n.*1143C>T
ENST00000678303.1:c.1676C>T	ENSP00000503696.1:p.Ala559Val
ENST00000678366.1:c.*2015C>T	ENSP00000504353.1:n.*2015C>T
ENST00000678546.1:c.*1711C>T	ENSP00000503062.1:n.*1711C>T
ENST00000678548.1:c.*1838C>T	ENSP00000503934.1:n.*1838C>T
ENST00000678626.1:n.1602C>T
ENST00000678739.1:c.*2087C>T	ENSP00000503806.1:n.*2087C>T
ENST00000678833.1:c.*1518C>T	ENSP00000503893.1:n.*1518C>T
ENST00000679023.1:c.1604C>T	ENSP00000503718.1:p.Ala535Val
ENST00000679076.1:c.1385C>T
ENST00000679111.1:c.*522C>T	ENSP00000504257.1:n.*522C>T
ENST00000679189.1:c.1415C>T	ENSP00000503356.1:p.Ala472Val
ENST00000341012.11:c.1604C>T	ENSP00000343034.7:p.Ala535Val
ENST00000372220.4:c.629C>T	ENSP00000361294.4:p.Ala210Val
ENST00000372228.7:c.1832C>T	ENSP00000361302.3:p.Ala611Val
ENST00000402686.7:c.1766C>T	ENSP00000385797.3:p.Ala589Val
ENST00000404875.6:c.1415C>T	ENSP00000384531.2:p.Ala472Val
ENST00000423007.5:c.1766C>T	ENSP00000404119.1:p.Ala589Val
ENST00000485278.5:n.2316C>T
ENST00000494883.1:n.309C>T
NM_001077365.1:c.1766C>T	NP_001070833.1:p.Ala589Val
NM_001077366.1:c.1604C>T	NP_001070834.1:p.Ala535Val
NM_001136113.1:c.1766C>T	NP_001129585.1:p.Ala589Val
NM_001136114.1:c.1415C>T	NP_001129586.1:p.Ala472Val
NM_007171.3:c.1832C>T	NP_009102.3:p.Ala611Val
XM_005272156.1:c.1832C>T	XP_005272213.1:p.Ala611Val
XM_005272158.1:c.1670C>T	XP_005272215.1:p.Ala557Val
XM_005272159.1:c.1481C>T	XP_005272216.1:p.Ala494Val
XM_005272162.1:c.635C>T	XP_005272219.1:p.Ala212Val
XM_006716932.1:c.1481C>T	XP_006716995.1:p.Ala494Val
XM_011518140.1:c.1685C>T	XP_011516442.1:p.Ala562Val
XM_011518141.1:c.1619C>T	XP_011516443.1:p.Ala540Val
XM_011518142.1:c.1523C>T	XP_011516444.1:p.Ala508Val
XM_011518143.1:c.1517C>T	XP_011516445.1:p.Ala506Val
XM_011518145.1:c.1376C>T	XP_011516447.1:p.Ala459Val
XM_011518147.1:c.704C>T	XP_011516449.1:p.Ala235Val
XR_929703.1:n.2008C>T
NM_001353193.1:c.1832C>T	NP_001340122.1:p.Ala611Val
NM_001353194.1:c.1604C>T	NP_001340123.1:p.Ala535Val
NM_001353195.1:c.1415C>T	NP_001340124.1:p.Ala472Val
NM_001353196.1:c.1676C>T	NP_001340125.1:p.Ala559Val
NM_001353197.1:c.1670C>T	NP_001340126.1:p.Ala557Val
NM_001353198.1:c.1670C>T	NP_001340127.1:p.Ala557Val
NM_001353199.1:c.1481C>T	NP_001340128.1:p.Ala494Val
NM_001353200.1:c.1310C>T	NP_001340129.1:p.Ala437Val
NR_148391.1:n.1816C>T
NR_148392.1:n.2034C>T
NR_148393.1:n.1955C>T
NR_148394.1:n.1709C>T
NR_148395.1:n.2107C>T
NR_148396.1:n.1741C>T
NR_148397.1:n.1866C>T
NR_148398.1:n.1821C>T
NR_148399.1:n.2347C>T
NR_148400.1:n.1946C>T
XM_005272162.3:c.635C>T	XP_005272219.1:p.Ala212Val
XM_006716932.2:c.1481C>T	XP_006716995.1:p.Ala494Val
XM_011518140.2:c.1685C>T	XP_011516442.1:p.Ala562Val
XM_011518141.2:c.1619C>T	XP_011516443.1:p.Ala540Val
XM_011518142.2:c.1523C>T	XP_011516444.1:p.Ala508Val
XM_011518143.2:c.1517C>T	XP_011516445.1:p.Ala506Val
XM_011518145.2:c.1376C>T	XP_011516447.1:p.Ala459Val
XM_017014205.2:c.635C>T	XP_016869694.1:p.Ala212Val
XM_024447380.1:c.635C>T	XP_024303148.1:p.Ala212Val
XM_024447381.1:c.941C>T	XP_024303149.1:p.Ala314Val
XM_024447382.1:c.635C>T	XP_024303150.1:p.Ala212Val
XR_001746160.2:n.1936C>T
XR_001746162.2:n.2141C>T
XR_001746164.1:n.1858C>T
XR_001746166.2:n.2153C>T
NM_001077365.2:c.1766C>T MANE Select	NP_001070833.1:p.Ala589Val
NM_001077366.2:c.1604C>T	NP_001070834.1:p.Ala535Val
NM_001136113.2:c.1766C>T	NP_001129585.1:p.Ala589Val
NM_001136114.2:c.1415C>T	NP_001129586.1:p.Ala472Val
NM_001353193.2:c.1832C>T	NP_001340122.2:p.Ala611Val
NM_001353194.2:c.1604C>T	NP_001340123.1:p.Ala535Val
NM_001353195.2:c.1415C>T	NP_001340124.1:p.Ala472Val
NM_001353196.2:c.1676C>T	NP_001340125.1:p.Ala559Val
NM_001353197.2:c.1670C>T	NP_001340126.2:p.Ala557Val
NM_001353198.2:c.1670C>T	NP_001340127.2:p.Ala557Val
NM_001353199.2:c.1481C>T	NP_001340128.2:p.Ala494Val
NM_001353200.2:c.1310C>T	NP_001340129.1:p.Ala437Val
NM_001374689.1:c.1754C>T	NP_001361618.1:p.Ala585Val
NM_001374690.1:c.1547C>T	NP_001361619.1:p.Ala516Val
NM_001374691.1:c.1415C>T	NP_001361620.1:p.Ala472Val
NM_001374692.1:c.1415C>T	NP_001361621.1:p.Ala472Val
NM_001374693.1:c.1415C>T	NP_001361622.1:p.Ala472Val
NM_001374695.1:c.1376C>T	NP_001361624.1:p.Ala459Val
NM_007171.4:c.1832C>T	NP_009102.4:p.Ala611Val
NR_148391.2:n.1800C>T
NR_148392.2:n.2018C>T
NR_148393.2:n.1939C>T
NR_148394.2:n.1693C>T
NR_148395.2:n.2091C>T
NR_148396.2:n.1725C>T
NR_148397.2:n.1850C>T
NR_148398.2:n.1805C>T
NR_148399.2:n.2331C>T
NR_148400.2:n.1930C>T