Canonical Allele Identifier: CA467424022

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397465G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522078G>T , CM000671.2:g.131522078G>T	GRCh38
NC_000009.11:g.134397465G>T , CM000671.1:g.134397465G>T	GRCh37
NC_000009.10:g.133387286G>T	NCBI36
NG_008896.1:g.24177G>T
NG_008896.2:g.24177G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1695G>T	ENSP00000343034.7:p.Ala565=
ENST00000404875.7:n.2397G>T
ENST00000423007.6:c.1914G>T	ENSP00000404119.2:p.Ala638=
ENST00000677295.2:c.*2201G>T	ENSP00000504346.2:n.*2201G>T
ENST00000678264.2:c.*2040G>T	ENSP00000503157.2:n.*2040G>T
ENST00000682070.1:n.2291-124G>T
ENST00000682813.1:n.2261G>T
ENST00000683392.1:n.4573-124G>T
ENST00000683712.1:n.2262G>T
ENST00000683900.1:n.3757G>T
ENST00000684062.1:n.2523G>T
ENST00000684579.1:n.3703G>T
ENST00000684679.1:n.1084G>T
ENST00000341012.12:c.1695G>T	ENSP00000343034.7:p.Ala565=
ENST00000372220.5:c.726G>T	ENSP00000361294.5:p.Ala242=
ENST00000372228.9:c.1923G>T	ENSP00000361302.3:p.Ala641=
ENST00000402686.8:c.1857G>T MANE Select	ENSP00000385797.4:p.Ala619=
ENST00000676640.1:c.1857G>T	ENSP00000503281.1:p.Ala619=
ENST00000676803.1:c.918G>T	ENSP00000503093.1:p.Ala306=
ENST00000676835.1:c.*1072G>T	ENSP00000502911.1:n.*1072G>T
ENST00000677029.1:c.1401G>T	ENSP00000502936.1:p.Ala467=
ENST00000677099.1:c.*1567G>T	ENSP00000504553.1:n.*1567G>T
ENST00000677216.1:c.1506G>T	ENSP00000503772.1:p.Ala502=
ENST00000677221.1:n.882G>T
ENST00000677295.1:c.*1203-124G>T	ENSP00000504346.1:n.*1203-124G>T
ENST00000677444.1:c.1802G>T
ENST00000677586.1:n.1224G>T
ENST00000677626.1:c.1506G>T	ENSP00000503552.1:p.Ala502=
ENST00000677853.1:c.*865G>T	ENSP00000503488.1:n.*865G>T
ENST00000678202.1:n.1016G>T
ENST00000678264.1:c.*1234G>T	ENSP00000503157.1:n.*1234G>T
ENST00000678303.1:c.1767G>T	ENSP00000503696.1:p.Ala589=
ENST00000678366.1:c.*2106G>T	ENSP00000504353.1:n.*2106G>T
ENST00000678546.1:c.*1802G>T	ENSP00000503062.1:n.*1802G>T
ENST00000678548.1:c.*1996G>T	ENSP00000503934.1:n.*1996G>T
ENST00000678626.1:n.1693G>T
ENST00000678739.1:c.*2147-124G>T	ENSP00000503806.1:n.*2147-124G>T
ENST00000678833.1:c.*1609G>T	ENSP00000503893.1:n.*1609G>T
ENST00000679023.1:c.1695G>T	ENSP00000503718.1:p.Ala565=
ENST00000679076.1:c.1476G>T
ENST00000679111.1:c.*613G>T	ENSP00000504257.1:n.*613G>T
ENST00000679189.1:c.1506G>T	ENSP00000503356.1:p.Ala502=
ENST00000341012.11:c.1695G>T	ENSP00000343034.7:p.Ala565=
ENST00000372220.4:c.720G>T	ENSP00000361294.4:p.Ala240=
ENST00000372228.7:c.1923G>T	ENSP00000361302.3:p.Ala641=
ENST00000402686.7:c.1857G>T	ENSP00000385797.3:p.Ala619=
ENST00000404875.6:c.1506G>T	ENSP00000384531.2:p.Ala502=
ENST00000423007.5:c.1857G>T	ENSP00000404119.1:p.Ala619=
ENST00000485278.5:n.2407G>T
ENST00000494883.1:n.400G>T
NM_001077365.1:c.1857G>T	NP_001070833.1:p.Ala619=
NM_001077366.1:c.1695G>T	NP_001070834.1:p.Ala565=
NM_001136113.1:c.1857G>T	NP_001129585.1:p.Ala619=
NM_001136114.1:c.1506G>T	NP_001129586.1:p.Ala502=
NM_007171.3:c.1923G>T	NP_009102.3:p.Ala641=
XM_005272156.1:c.1923G>T	XP_005272213.1:p.Ala641=
XM_005272158.1:c.1761G>T	XP_005272215.1:p.Ala587=
XM_005272159.1:c.1572G>T	XP_005272216.1:p.Ala524=
XM_005272162.1:c.726G>T	XP_005272219.1:p.Ala242=
XM_006716932.1:c.1572G>T	XP_006716995.1:p.Ala524=
XM_011518140.1:c.1776G>T	XP_011516442.1:p.Ala592=
XM_011518141.1:c.1710G>T	XP_011516443.1:p.Ala570=
XM_011518142.1:c.1614G>T	XP_011516444.1:p.Ala538=
XM_011518143.1:c.1608G>T	XP_011516445.1:p.Ala536=
XM_011518145.1:c.1467G>T	XP_011516447.1:p.Ala489=
XM_011518147.1:c.795G>T	XP_011516449.1:p.Ala265=
XR_929703.1:n.2099G>T
NM_001353193.1:c.1923G>T	NP_001340122.1:p.Ala641=
NM_001353194.1:c.1695G>T	NP_001340123.1:p.Ala565=
NM_001353195.1:c.1506G>T	NP_001340124.1:p.Ala502=
NM_001353196.1:c.1767G>T	NP_001340125.1:p.Ala589=
NM_001353197.1:c.1761G>T	NP_001340126.1:p.Ala587=
NM_001353198.1:c.1761G>T	NP_001340127.1:p.Ala587=
NM_001353199.1:c.1572G>T	NP_001340128.1:p.Ala524=
NM_001353200.1:c.1401G>T	NP_001340129.1:p.Ala467=
NR_148391.1:n.1907G>T
NR_148392.1:n.2125G>T
NR_148393.1:n.2046G>T
NR_148394.1:n.1800G>T
NR_148395.1:n.2198G>T
NR_148396.1:n.1832G>T
NR_148397.1:n.1957G>T
NR_148398.1:n.1912G>T
NR_148399.1:n.2438G>T
NR_148400.1:n.2037G>T
XM_005272162.3:c.726G>T	XP_005272219.1:p.Ala242=
XM_006716932.2:c.1572G>T	XP_006716995.1:p.Ala524=
XM_011518140.2:c.1776G>T	XP_011516442.1:p.Ala592=
XM_011518141.2:c.1710G>T	XP_011516443.1:p.Ala570=
XM_011518142.2:c.1614G>T	XP_011516444.1:p.Ala538=
XM_011518143.2:c.1608G>T	XP_011516445.1:p.Ala536=
XM_011518145.2:c.1467G>T	XP_011516447.1:p.Ala489=
XM_017014205.2:c.726G>T	XP_016869694.1:p.Ala242=
XM_024447380.1:c.726G>T	XP_024303148.1:p.Ala242=
XM_024447381.1:c.1032G>T	XP_024303149.1:p.Ala344=
XM_024447382.1:c.726G>T	XP_024303150.1:p.Ala242=
XR_001746160.2:n.2027G>T
XR_001746162.2:n.2232G>T
XR_001746164.1:n.1949G>T
XR_001746166.2:n.2244G>T
NM_001077365.2:c.1857G>T MANE Select	NP_001070833.1:p.Ala619=
NM_001077366.2:c.1695G>T	NP_001070834.1:p.Ala565=
NM_001136113.2:c.1857G>T	NP_001129585.1:p.Ala619=
NM_001136114.2:c.1506G>T	NP_001129586.1:p.Ala502=
NM_001353193.2:c.1923G>T	NP_001340122.2:p.Ala641=
NM_001353194.2:c.1695G>T	NP_001340123.1:p.Ala565=
NM_001353195.2:c.1506G>T	NP_001340124.1:p.Ala502=
NM_001353196.2:c.1767G>T	NP_001340125.1:p.Ala589=
NM_001353197.2:c.1761G>T	NP_001340126.2:p.Ala587=
NM_001353198.2:c.1761G>T	NP_001340127.2:p.Ala587=
NM_001353199.2:c.1572G>T	NP_001340128.2:p.Ala524=
NM_001353200.2:c.1401G>T	NP_001340129.1:p.Ala467=
NM_001374689.1:c.1845G>T	NP_001361618.1:p.Ala615=
NM_001374690.1:c.1638G>T	NP_001361619.1:p.Ala546=
NM_001374691.1:c.1506G>T	NP_001361620.1:p.Ala502=
NM_001374692.1:c.1506G>T	NP_001361621.1:p.Ala502=
NM_001374693.1:c.1506G>T	NP_001361622.1:p.Ala502=
NM_001374695.1:c.1467G>T	NP_001361624.1:p.Ala489=
NM_007171.4:c.1923G>T	NP_009102.4:p.Ala641=
NR_148391.2:n.1891G>T
NR_148392.2:n.2109G>T
NR_148393.2:n.2030G>T
NR_148394.2:n.1784G>T
NR_148395.2:n.2182G>T
NR_148396.2:n.1816G>T
NR_148397.2:n.1941G>T
NR_148398.2:n.1896G>T
NR_148399.2:n.2422G>T
NR_148400.2:n.2021G>T