Canonical Allele Identifier: CA375315515

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398486A>T (hg19) ; chr9:g.131523099A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523099A>T , CM000671.2:g.131523099A>T	GRCh38
NC_000009.11:g.134398486A>T , CM000671.1:g.134398486A>T	GRCh37
NC_000009.10:g.133388307A>T	NCBI36
NG_008896.1:g.25198A>T
NG_008896.2:g.25198A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2009A>T	ENSP00000343034.7:p.Lys670Ile
ENST00000404875.7:n.2711A>T
ENST00000423007.6:c.2228A>T	ENSP00000404119.2:p.Lys743Ile
ENST00000677295.2:c.*2515A>T	ENSP00000504346.2:n.*2515A>T
ENST00000678264.2:c.*2354A>T	ENSP00000503157.2:n.*2354A>T
ENST00000682070.1:n.2481A>T
ENST00000682639.1:c.168A>T
ENST00000682813.1:n.2568A>T
ENST00000683231.1:c.168A>T
ENST00000683392.1:n.4763A>T
ENST00000683712.1:n.2576A>T
ENST00000683900.1:n.4071A>T
ENST00000684062.1:n.2837A>T
ENST00000684399.1:c.168A>T
ENST00000684579.1:n.4017A>T
ENST00000341012.12:c.2009A>T	ENSP00000343034.7:p.Lys670Ile
ENST00000372220.5:c.1040A>T	ENSP00000361294.5:p.Lys347Ile
ENST00000372228.9:c.2237A>T	ENSP00000361302.3:p.Lys746Ile
ENST00000402686.8:c.2171A>T MANE Select	ENSP00000385797.4:p.Lys724Ile
ENST00000676640.1:c.2171A>T	ENSP00000503281.1:p.Lys724Ile
ENST00000676803.1:c.1232A>T	ENSP00000503093.1:p.Lys411Ile
ENST00000676835.1:c.*1386A>T	ENSP00000502911.1:n.*1386A>T
ENST00000677029.1:c.1715A>T	ENSP00000502936.1:p.Lys572Ile
ENST00000677099.1:c.*1881A>T	ENSP00000504553.1:n.*1881A>T
ENST00000677216.1:c.1820A>T	ENSP00000503772.1:p.Lys607Ile
ENST00000677295.1:c.*1393A>T	ENSP00000504346.1:n.*1393A>T
ENST00000677444.1:c.2116A>T
ENST00000677586.1:n.1538A>T
ENST00000677626.1:c.1820A>T	ENSP00000503552.1:p.Lys607Ile
ENST00000677853.1:c.*1179A>T	ENSP00000503488.1:n.*1179A>T
ENST00000678264.1:c.*1548A>T	ENSP00000503157.1:n.*1548A>T
ENST00000678303.1:c.2081A>T	ENSP00000503696.1:p.Lys694Ile
ENST00000678366.1:c.*2420A>T	ENSP00000504353.1:n.*2420A>T
ENST00000678546.1:c.*2116A>T	ENSP00000503062.1:n.*2116A>T
ENST00000678548.1:c.*2310A>T	ENSP00000503934.1:n.*2310A>T
ENST00000678626.1:n.2007A>T
ENST00000678739.1:c.*2337A>T	ENSP00000503806.1:n.*2337A>T
ENST00000678833.1:c.*1923A>T	ENSP00000503893.1:n.*1923A>T
ENST00000679023.1:c.2009A>T	ENSP00000503718.1:p.Lys670Ile
ENST00000679076.1:c.1790A>T
ENST00000679111.1:c.*927A>T	ENSP00000504257.1:n.*927A>T
ENST00000679189.1:c.1820A>T	ENSP00000503356.1:p.Lys607Ile
ENST00000341012.11:c.2009A>T	ENSP00000343034.7:p.Lys670Ile
ENST00000372220.4:c.1034A>T	ENSP00000361294.4:p.Lys345Ile
ENST00000372228.7:c.2237A>T	ENSP00000361302.3:p.Lys746Ile
ENST00000402686.7:c.2171A>T	ENSP00000385797.3:p.Lys724Ile
ENST00000404875.6:c.1820A>T	ENSP00000384531.2:p.Lys607Ile
ENST00000423007.5:c.2171A>T	ENSP00000404119.1:p.Lys724Ile
ENST00000485278.5:n.2721A>T
NM_001077365.1:c.2171A>T	NP_001070833.1:p.Lys724Ile
NM_001077366.1:c.2009A>T	NP_001070834.1:p.Lys670Ile
NM_001136113.1:c.2171A>T	NP_001129585.1:p.Lys724Ile
NM_001136114.1:c.1820A>T	NP_001129586.1:p.Lys607Ile
NM_007171.3:c.2237A>T	NP_009102.3:p.Lys746Ile
XM_005272156.1:c.2237A>T	XP_005272213.1:p.Lys746Ile
XM_005272158.1:c.2075A>T	XP_005272215.1:p.Lys692Ile
XM_005272159.1:c.1886A>T	XP_005272216.1:p.Lys629Ile
XM_005272162.1:c.1040A>T	XP_005272219.1:p.Lys347Ile
XM_006716932.1:c.1886A>T	XP_006716995.1:p.Lys629Ile
XM_011518140.1:c.2090A>T	XP_011516442.1:p.Lys697Ile
XM_011518141.1:c.2024A>T	XP_011516443.1:p.Lys675Ile
XM_011518142.1:c.1928A>T	XP_011516444.1:p.Lys643Ile
XM_011518143.1:c.1922A>T	XP_011516445.1:p.Lys641Ile
XM_011518145.1:c.1781A>T	XP_011516447.1:p.Lys594Ile
XM_011518147.1:c.1109A>T	XP_011516449.1:p.Lys370Ile
XR_929703.1:n.2413A>T
NM_001353193.1:c.2237A>T	NP_001340122.1:p.Lys746Ile
NM_001353194.1:c.2009A>T	NP_001340123.1:p.Lys670Ile
NM_001353195.1:c.1820A>T	NP_001340124.1:p.Lys607Ile
NM_001353196.1:c.2081A>T	NP_001340125.1:p.Lys694Ile
NM_001353197.1:c.2075A>T	NP_001340126.1:p.Lys692Ile
NM_001353198.1:c.2075A>T	NP_001340127.1:p.Lys692Ile
NM_001353199.1:c.1886A>T	NP_001340128.1:p.Lys629Ile
NM_001353200.1:c.1715A>T	NP_001340129.1:p.Lys572Ile
NR_148391.1:n.2221A>T
NR_148392.1:n.2439A>T
NR_148393.1:n.2360A>T
NR_148394.1:n.2114A>T
NR_148395.1:n.2512A>T
NR_148396.1:n.2146A>T
NR_148397.1:n.2271A>T
NR_148398.1:n.2226A>T
NR_148399.1:n.2752A>T
NR_148400.1:n.2351A>T
XM_005272162.3:c.1040A>T	XP_005272219.1:p.Lys347Ile
XM_006716932.2:c.1886A>T	XP_006716995.1:p.Lys629Ile
XM_011518140.2:c.2090A>T	XP_011516442.1:p.Lys697Ile
XM_011518141.2:c.2024A>T	XP_011516443.1:p.Lys675Ile
XM_011518142.2:c.1928A>T	XP_011516444.1:p.Lys643Ile
XM_011518143.2:c.1922A>T	XP_011516445.1:p.Lys641Ile
XM_011518145.2:c.1781A>T	XP_011516447.1:p.Lys594Ile
XM_017014205.2:c.1040A>T	XP_016869694.1:p.Lys347Ile
XM_024447380.1:c.1040A>T	XP_024303148.1:p.Lys347Ile
XM_024447381.1:c.1346A>T	XP_024303149.1:p.Lys449Ile
XM_024447382.1:c.1040A>T	XP_024303150.1:p.Lys347Ile
XR_001746160.2:n.2341A>T
XR_001746162.2:n.2546A>T
XR_001746164.1:n.2263A>T
XR_001746166.2:n.2558A>T
NM_001077365.2:c.2171A>T MANE Select	NP_001070833.1:p.Lys724Ile
NM_001077366.2:c.2009A>T	NP_001070834.1:p.Lys670Ile
NM_001136113.2:c.2171A>T	NP_001129585.1:p.Lys724Ile
NM_001136114.2:c.1820A>T	NP_001129586.1:p.Lys607Ile
NM_001353193.2:c.2237A>T	NP_001340122.2:p.Lys746Ile
NM_001353194.2:c.2009A>T	NP_001340123.1:p.Lys670Ile
NM_001353195.2:c.1820A>T	NP_001340124.1:p.Lys607Ile
NM_001353196.2:c.2081A>T	NP_001340125.1:p.Lys694Ile
NM_001353197.2:c.2075A>T	NP_001340126.2:p.Lys692Ile
NM_001353198.2:c.2075A>T	NP_001340127.2:p.Lys692Ile
NM_001353199.2:c.1886A>T	NP_001340128.2:p.Lys629Ile
NM_001353200.2:c.1715A>T	NP_001340129.1:p.Lys572Ile
NM_001374689.1:c.2159A>T	NP_001361618.1:p.Lys720Ile
NM_001374690.1:c.1952A>T	NP_001361619.1:p.Lys651Ile
NM_001374691.1:c.1820A>T	NP_001361620.1:p.Lys607Ile
NM_001374692.1:c.1820A>T	NP_001361621.1:p.Lys607Ile
NM_001374693.1:c.1820A>T	NP_001361622.1:p.Lys607Ile
NM_001374695.1:c.1781A>T	NP_001361624.1:p.Lys594Ile
NM_007171.4:c.2237A>T	NP_009102.4:p.Lys746Ile
NR_148391.2:n.2205A>T
NR_148392.2:n.2423A>T
NR_148393.2:n.2344A>T
NR_148394.2:n.2098A>T
NR_148395.2:n.2496A>T
NR_148396.2:n.2130A>T
NR_148397.2:n.2255A>T
NR_148398.2:n.2210A>T
NR_148399.2:n.2736A>T
NR_148400.2:n.2335A>T