Canonical Allele Identifier: CA467424052

Gene: POMT1

Linked Data

• dbSNP Id: rs1225386352
• gnomAD v2: 9-134397508-C-T
• gnomAD v4: 9-131522121-C-T
• MyVariant Identifiers: chr9:g.134397508C>T (hg19) ; chr9:g.131522121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522121C>T , CM000671.2:g.131522121C>T	GRCh38
NC_000009.11:g.134397508C>T , CM000671.1:g.134397508C>T	GRCh37
NC_000009.10:g.133387329C>T	NCBI36
NG_008896.1:g.24220C>T
NG_008896.2:g.24220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1738C>T	ENSP00000343034.7:p.Leu580=
ENST00000404875.7:n.2440C>T
ENST00000423007.6:c.1957C>T	ENSP00000404119.2:p.Leu653=
ENST00000677295.2:c.*2244C>T	ENSP00000504346.2:n.*2244C>T
ENST00000678264.2:c.*2083C>T	ENSP00000503157.2:n.*2083C>T
ENST00000682070.1:n.2291-81C>T
ENST00000682813.1:n.2304C>T
ENST00000683392.1:n.4573-81C>T
ENST00000683712.1:n.2305C>T
ENST00000683900.1:n.3800C>T
ENST00000684062.1:n.2566C>T
ENST00000684579.1:n.3746C>T
ENST00000684679.1:n.1127C>T
ENST00000341012.12:c.1738C>T	ENSP00000343034.7:p.Leu580=
ENST00000372220.5:c.769C>T	ENSP00000361294.5:p.Leu257=
ENST00000372228.9:c.1966C>T	ENSP00000361302.3:p.Leu656=
ENST00000402686.8:c.1900C>T MANE Select	ENSP00000385797.4:p.Leu634=
ENST00000676640.1:c.1900C>T	ENSP00000503281.1:p.Leu634=
ENST00000676803.1:c.961C>T	ENSP00000503093.1:p.Leu321=
ENST00000676835.1:c.*1115C>T	ENSP00000502911.1:n.*1115C>T
ENST00000677029.1:c.1444C>T	ENSP00000502936.1:p.Leu482=
ENST00000677099.1:c.*1610C>T	ENSP00000504553.1:n.*1610C>T
ENST00000677216.1:c.1549C>T	ENSP00000503772.1:p.Leu517=
ENST00000677221.1:n.925C>T
ENST00000677295.1:c.*1203-81C>T	ENSP00000504346.1:n.*1203-81C>T
ENST00000677444.1:c.1845C>T
ENST00000677586.1:n.1267C>T
ENST00000677626.1:c.1549C>T	ENSP00000503552.1:p.Leu517=
ENST00000677853.1:c.*908C>T	ENSP00000503488.1:n.*908C>T
ENST00000678202.1:n.1059C>T
ENST00000678264.1:c.*1277C>T	ENSP00000503157.1:n.*1277C>T
ENST00000678303.1:c.1810C>T	ENSP00000503696.1:p.Leu604=
ENST00000678366.1:c.*2149C>T	ENSP00000504353.1:n.*2149C>T
ENST00000678546.1:c.*1845C>T	ENSP00000503062.1:n.*1845C>T
ENST00000678548.1:c.*2039C>T	ENSP00000503934.1:n.*2039C>T
ENST00000678626.1:n.1736C>T
ENST00000678739.1:c.*2147-81C>T	ENSP00000503806.1:n.*2147-81C>T
ENST00000678833.1:c.*1652C>T	ENSP00000503893.1:n.*1652C>T
ENST00000679023.1:c.1738C>T	ENSP00000503718.1:p.Leu580=
ENST00000679076.1:c.1519C>T
ENST00000679111.1:c.*656C>T	ENSP00000504257.1:n.*656C>T
ENST00000679189.1:c.1549C>T	ENSP00000503356.1:p.Leu517=
ENST00000341012.11:c.1738C>T	ENSP00000343034.7:p.Leu580=
ENST00000372220.4:c.763C>T	ENSP00000361294.4:p.Leu255=
ENST00000372228.7:c.1966C>T	ENSP00000361302.3:p.Leu656=
ENST00000402686.7:c.1900C>T	ENSP00000385797.3:p.Leu634=
ENST00000404875.6:c.1549C>T	ENSP00000384531.2:p.Leu517=
ENST00000423007.5:c.1900C>T	ENSP00000404119.1:p.Leu634=
ENST00000485278.5:n.2450C>T
ENST00000494883.1:n.443C>T
NM_001077365.1:c.1900C>T	NP_001070833.1:p.Leu634=
NM_001077366.1:c.1738C>T	NP_001070834.1:p.Leu580=
NM_001136113.1:c.1900C>T	NP_001129585.1:p.Leu634=
NM_001136114.1:c.1549C>T	NP_001129586.1:p.Leu517=
NM_007171.3:c.1966C>T	NP_009102.3:p.Leu656=
XM_005272156.1:c.1966C>T	XP_005272213.1:p.Leu656=
XM_005272158.1:c.1804C>T	XP_005272215.1:p.Leu602=
XM_005272159.1:c.1615C>T	XP_005272216.1:p.Leu539=
XM_005272162.1:c.769C>T	XP_005272219.1:p.Leu257=
XM_006716932.1:c.1615C>T	XP_006716995.1:p.Leu539=
XM_011518140.1:c.1819C>T	XP_011516442.1:p.Leu607=
XM_011518141.1:c.1753C>T	XP_011516443.1:p.Leu585=
XM_011518142.1:c.1657C>T	XP_011516444.1:p.Leu553=
XM_011518143.1:c.1651C>T	XP_011516445.1:p.Leu551=
XM_011518145.1:c.1510C>T	XP_011516447.1:p.Leu504=
XM_011518147.1:c.838C>T	XP_011516449.1:p.Leu280=
XR_929703.1:n.2142C>T
NM_001353193.1:c.1966C>T	NP_001340122.1:p.Leu656=
NM_001353194.1:c.1738C>T	NP_001340123.1:p.Leu580=
NM_001353195.1:c.1549C>T	NP_001340124.1:p.Leu517=
NM_001353196.1:c.1810C>T	NP_001340125.1:p.Leu604=
NM_001353197.1:c.1804C>T	NP_001340126.1:p.Leu602=
NM_001353198.1:c.1804C>T	NP_001340127.1:p.Leu602=
NM_001353199.1:c.1615C>T	NP_001340128.1:p.Leu539=
NM_001353200.1:c.1444C>T	NP_001340129.1:p.Leu482=
NR_148391.1:n.1950C>T
NR_148392.1:n.2168C>T
NR_148393.1:n.2089C>T
NR_148394.1:n.1843C>T
NR_148395.1:n.2241C>T
NR_148396.1:n.1875C>T
NR_148397.1:n.2000C>T
NR_148398.1:n.1955C>T
NR_148399.1:n.2481C>T
NR_148400.1:n.2080C>T
XM_005272162.3:c.769C>T	XP_005272219.1:p.Leu257=
XM_006716932.2:c.1615C>T	XP_006716995.1:p.Leu539=
XM_011518140.2:c.1819C>T	XP_011516442.1:p.Leu607=
XM_011518141.2:c.1753C>T	XP_011516443.1:p.Leu585=
XM_011518142.2:c.1657C>T	XP_011516444.1:p.Leu553=
XM_011518143.2:c.1651C>T	XP_011516445.1:p.Leu551=
XM_011518145.2:c.1510C>T	XP_011516447.1:p.Leu504=
XM_017014205.2:c.769C>T	XP_016869694.1:p.Leu257=
XM_024447380.1:c.769C>T	XP_024303148.1:p.Leu257=
XM_024447381.1:c.1075C>T	XP_024303149.1:p.Leu359=
XM_024447382.1:c.769C>T	XP_024303150.1:p.Leu257=
XR_001746160.2:n.2070C>T
XR_001746162.2:n.2275C>T
XR_001746164.1:n.1992C>T
XR_001746166.2:n.2287C>T
NM_001077365.2:c.1900C>T MANE Select	NP_001070833.1:p.Leu634=
NM_001077366.2:c.1738C>T	NP_001070834.1:p.Leu580=
NM_001136113.2:c.1900C>T	NP_001129585.1:p.Leu634=
NM_001136114.2:c.1549C>T	NP_001129586.1:p.Leu517=
NM_001353193.2:c.1966C>T	NP_001340122.2:p.Leu656=
NM_001353194.2:c.1738C>T	NP_001340123.1:p.Leu580=
NM_001353195.2:c.1549C>T	NP_001340124.1:p.Leu517=
NM_001353196.2:c.1810C>T	NP_001340125.1:p.Leu604=
NM_001353197.2:c.1804C>T	NP_001340126.2:p.Leu602=
NM_001353198.2:c.1804C>T	NP_001340127.2:p.Leu602=
NM_001353199.2:c.1615C>T	NP_001340128.2:p.Leu539=
NM_001353200.2:c.1444C>T	NP_001340129.1:p.Leu482=
NM_001374689.1:c.1888C>T	NP_001361618.1:p.Leu630=
NM_001374690.1:c.1681C>T	NP_001361619.1:p.Leu561=
NM_001374691.1:c.1549C>T	NP_001361620.1:p.Leu517=
NM_001374692.1:c.1549C>T	NP_001361621.1:p.Leu517=
NM_001374693.1:c.1549C>T	NP_001361622.1:p.Leu517=
NM_001374695.1:c.1510C>T	NP_001361624.1:p.Leu504=
NM_007171.4:c.1966C>T	NP_009102.4:p.Leu656=
NR_148391.2:n.1934C>T
NR_148392.2:n.2152C>T
NR_148393.2:n.2073C>T
NR_148394.2:n.1827C>T
NR_148395.2:n.2225C>T
NR_148396.2:n.1859C>T
NR_148397.2:n.1984C>T
NR_148398.2:n.1939C>T
NR_148399.2:n.2465C>T
NR_148400.2:n.2064C>T