Canonical Allele Identifier: CA375314578

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397560A>T (hg19) ; chr9:g.131522173A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522173A>T , CM000671.2:g.131522173A>T	GRCh38
NC_000009.11:g.134397560A>T , CM000671.1:g.134397560A>T	GRCh37
NC_000009.10:g.133387381A>T	NCBI36
NG_008896.1:g.24272A>T
NG_008896.2:g.24272A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1790A>T	ENSP00000343034.7:p.Gln597Leu
ENST00000404875.7:n.2492A>T
ENST00000423007.6:c.2009A>T	ENSP00000404119.2:p.Gln670Leu
ENST00000677295.2:c.*2296A>T	ENSP00000504346.2:n.*2296A>T
ENST00000678264.2:c.*2135A>T	ENSP00000503157.2:n.*2135A>T
ENST00000682070.1:n.2291-29A>T
ENST00000682813.1:n.2356A>T
ENST00000683392.1:n.4573-29A>T
ENST00000683712.1:n.2357A>T
ENST00000683900.1:n.3852A>T
ENST00000684062.1:n.2618A>T
ENST00000684579.1:n.3798A>T
ENST00000684679.1:n.1179A>T
ENST00000341012.12:c.1790A>T	ENSP00000343034.7:p.Gln597Leu
ENST00000372220.5:c.821A>T	ENSP00000361294.5:p.Gln274Leu
ENST00000372228.9:c.2018A>T	ENSP00000361302.3:p.Gln673Leu
ENST00000402686.8:c.1952A>T MANE Select	ENSP00000385797.4:p.Gln651Leu
ENST00000676640.1:c.1952A>T	ENSP00000503281.1:p.Gln651Leu
ENST00000676803.1:c.1013A>T	ENSP00000503093.1:p.Gln338Leu
ENST00000676835.1:c.*1167A>T	ENSP00000502911.1:n.*1167A>T
ENST00000677029.1:c.1496A>T	ENSP00000502936.1:p.Gln499Leu
ENST00000677099.1:c.*1662A>T	ENSP00000504553.1:n.*1662A>T
ENST00000677216.1:c.1601A>T	ENSP00000503772.1:p.Gln534Leu
ENST00000677221.1:n.977A>T
ENST00000677295.1:c.*1203-29A>T	ENSP00000504346.1:n.*1203-29A>T
ENST00000677444.1:c.1897A>T
ENST00000677586.1:n.1319A>T
ENST00000677626.1:c.1601A>T	ENSP00000503552.1:p.Gln534Leu
ENST00000677853.1:c.*960A>T	ENSP00000503488.1:n.*960A>T
ENST00000678202.1:n.1111A>T
ENST00000678264.1:c.*1329A>T	ENSP00000503157.1:n.*1329A>T
ENST00000678303.1:c.1862A>T	ENSP00000503696.1:p.Gln621Leu
ENST00000678366.1:c.*2201A>T	ENSP00000504353.1:n.*2201A>T
ENST00000678546.1:c.*1897A>T	ENSP00000503062.1:n.*1897A>T
ENST00000678548.1:c.*2091A>T	ENSP00000503934.1:n.*2091A>T
ENST00000678626.1:n.1788A>T
ENST00000678739.1:c.*2147-29A>T	ENSP00000503806.1:n.*2147-29A>T
ENST00000678833.1:c.*1704A>T	ENSP00000503893.1:n.*1704A>T
ENST00000679023.1:c.1790A>T	ENSP00000503718.1:p.Gln597Leu
ENST00000679076.1:c.1571A>T
ENST00000679111.1:c.*708A>T	ENSP00000504257.1:n.*708A>T
ENST00000679189.1:c.1601A>T	ENSP00000503356.1:p.Gln534Leu
ENST00000341012.11:c.1790A>T	ENSP00000343034.7:p.Gln597Leu
ENST00000372220.4:c.815A>T	ENSP00000361294.4:p.Gln272Leu
ENST00000372228.7:c.2018A>T	ENSP00000361302.3:p.Gln673Leu
ENST00000402686.7:c.1952A>T	ENSP00000385797.3:p.Gln651Leu
ENST00000404875.6:c.1601A>T	ENSP00000384531.2:p.Gln534Leu
ENST00000423007.5:c.1952A>T	ENSP00000404119.1:p.Gln651Leu
ENST00000485278.5:n.2502A>T
ENST00000494883.1:n.495A>T
NM_001077365.1:c.1952A>T	NP_001070833.1:p.Gln651Leu
NM_001077366.1:c.1790A>T	NP_001070834.1:p.Gln597Leu
NM_001136113.1:c.1952A>T	NP_001129585.1:p.Gln651Leu
NM_001136114.1:c.1601A>T	NP_001129586.1:p.Gln534Leu
NM_007171.3:c.2018A>T	NP_009102.3:p.Gln673Leu
XM_005272156.1:c.2018A>T	XP_005272213.1:p.Gln673Leu
XM_005272158.1:c.1856A>T	XP_005272215.1:p.Gln619Leu
XM_005272159.1:c.1667A>T	XP_005272216.1:p.Gln556Leu
XM_005272162.1:c.821A>T	XP_005272219.1:p.Gln274Leu
XM_006716932.1:c.1667A>T	XP_006716995.1:p.Gln556Leu
XM_011518140.1:c.1871A>T	XP_011516442.1:p.Gln624Leu
XM_011518141.1:c.1805A>T	XP_011516443.1:p.Gln602Leu
XM_011518142.1:c.1709A>T	XP_011516444.1:p.Gln570Leu
XM_011518143.1:c.1703A>T	XP_011516445.1:p.Gln568Leu
XM_011518145.1:c.1562A>T	XP_011516447.1:p.Gln521Leu
XM_011518147.1:c.890A>T	XP_011516449.1:p.Gln297Leu
XR_929703.1:n.2194A>T
NM_001353193.1:c.2018A>T	NP_001340122.1:p.Gln673Leu
NM_001353194.1:c.1790A>T	NP_001340123.1:p.Gln597Leu
NM_001353195.1:c.1601A>T	NP_001340124.1:p.Gln534Leu
NM_001353196.1:c.1862A>T	NP_001340125.1:p.Gln621Leu
NM_001353197.1:c.1856A>T	NP_001340126.1:p.Gln619Leu
NM_001353198.1:c.1856A>T	NP_001340127.1:p.Gln619Leu
NM_001353199.1:c.1667A>T	NP_001340128.1:p.Gln556Leu
NM_001353200.1:c.1496A>T	NP_001340129.1:p.Gln499Leu
NR_148391.1:n.2002A>T
NR_148392.1:n.2220A>T
NR_148393.1:n.2141A>T
NR_148394.1:n.1895A>T
NR_148395.1:n.2293A>T
NR_148396.1:n.1927A>T
NR_148397.1:n.2052A>T
NR_148398.1:n.2007A>T
NR_148399.1:n.2533A>T
NR_148400.1:n.2132A>T
XM_005272162.3:c.821A>T	XP_005272219.1:p.Gln274Leu
XM_006716932.2:c.1667A>T	XP_006716995.1:p.Gln556Leu
XM_011518140.2:c.1871A>T	XP_011516442.1:p.Gln624Leu
XM_011518141.2:c.1805A>T	XP_011516443.1:p.Gln602Leu
XM_011518142.2:c.1709A>T	XP_011516444.1:p.Gln570Leu
XM_011518143.2:c.1703A>T	XP_011516445.1:p.Gln568Leu
XM_011518145.2:c.1562A>T	XP_011516447.1:p.Gln521Leu
XM_017014205.2:c.821A>T	XP_016869694.1:p.Gln274Leu
XM_024447380.1:c.821A>T	XP_024303148.1:p.Gln274Leu
XM_024447381.1:c.1127A>T	XP_024303149.1:p.Gln376Leu
XM_024447382.1:c.821A>T	XP_024303150.1:p.Gln274Leu
XR_001746160.2:n.2122A>T
XR_001746162.2:n.2327A>T
XR_001746164.1:n.2044A>T
XR_001746166.2:n.2339A>T
NM_001077365.2:c.1952A>T MANE Select	NP_001070833.1:p.Gln651Leu
NM_001077366.2:c.1790A>T	NP_001070834.1:p.Gln597Leu
NM_001136113.2:c.1952A>T	NP_001129585.1:p.Gln651Leu
NM_001136114.2:c.1601A>T	NP_001129586.1:p.Gln534Leu
NM_001353193.2:c.2018A>T	NP_001340122.2:p.Gln673Leu
NM_001353194.2:c.1790A>T	NP_001340123.1:p.Gln597Leu
NM_001353195.2:c.1601A>T	NP_001340124.1:p.Gln534Leu
NM_001353196.2:c.1862A>T	NP_001340125.1:p.Gln621Leu
NM_001353197.2:c.1856A>T	NP_001340126.2:p.Gln619Leu
NM_001353198.2:c.1856A>T	NP_001340127.2:p.Gln619Leu
NM_001353199.2:c.1667A>T	NP_001340128.2:p.Gln556Leu
NM_001353200.2:c.1496A>T	NP_001340129.1:p.Gln499Leu
NM_001374689.1:c.1940A>T	NP_001361618.1:p.Gln647Leu
NM_001374690.1:c.1733A>T	NP_001361619.1:p.Gln578Leu
NM_001374691.1:c.1601A>T	NP_001361620.1:p.Gln534Leu
NM_001374692.1:c.1601A>T	NP_001361621.1:p.Gln534Leu
NM_001374693.1:c.1601A>T	NP_001361622.1:p.Gln534Leu
NM_001374695.1:c.1562A>T	NP_001361624.1:p.Gln521Leu
NM_007171.4:c.2018A>T	NP_009102.4:p.Gln673Leu
NR_148391.2:n.1986A>T
NR_148392.2:n.2204A>T
NR_148393.2:n.2125A>T
NR_148394.2:n.1879A>T
NR_148395.2:n.2277A>T
NR_148396.2:n.1911A>T
NR_148397.2:n.2036A>T
NR_148398.2:n.1991A>T
NR_148399.2:n.2517A>T
NR_148400.2:n.2116A>T