Canonical Allele Identifier: CA340814973

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76205701G>A (hg19) ; chr1:g.75740016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740016G>A , CM000663.2:g.75740016G>A	GRCh38
NC_000001.10:g.76205701G>A , CM000663.1:g.76205701G>A	GRCh37
NC_000001.9:g.75978289G>A	NCBI36
NG_007045.2:g.20659G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.505G>A MANE Select	ENSP00000359878.5:p.Val169Ile
ENST00000473018.3:n.2629G>A
ENST00000541113.6:c.505G>A	ENSP00000442324.2:p.Val169Ile
ENST00000679509.1:n.1467G>A
ENST00000679530.1:c.*273G>A	ENSP00000506454.1:n.*273G>A
ENST00000679615.1:n.2629G>A
ENST00000679687.1:c.67G>A	ENSP00000506598.1:p.Val23Ile
ENST00000679704.1:c.*271G>A	ENSP00000505117.1:n.*271G>A
ENST00000679709.1:c.*468G>A	ENSP00000506623.1:n.*468G>A
ENST00000679804.1:n.244G>A
ENST00000679976.1:c.*89G>A	ENSP00000505565.1:n.*89G>A
ENST00000680166.1:n.3794G>A
ENST00000680517.1:c.*2G>A	ENSP00000505803.1:n.*2G>A
ENST00000680582.1:n.1467G>A
ENST00000680613.1:c.505G>A	ENSP00000506114.1:p.Val169Ile
ENST00000680662.1:c.*419G>A	ENSP00000505080.1:n.*419G>A
ENST00000680691.1:c.*168G>A	ENSP00000506487.1:n.*168G>A
ENST00000680694.1:c.*93G>A	ENSP00000505658.1:n.*93G>A
ENST00000680743.1:c.*172G>A	ENSP00000505073.1:n.*172G>A
ENST00000680749.1:c.505G>A	ENSP00000505122.1:p.Val169Ile
ENST00000680798.1:c.*89G>A	ENSP00000505670.1:n.*89G>A
ENST00000680805.1:c.505G>A	ENSP00000505447.1:p.Val169Ile
ENST00000680844.1:c.*289G>A	ENSP00000506541.1:n.*289G>A
ENST00000680948.1:c.*372G>A	ENSP00000505441.1:n.*372G>A
ENST00000680964.1:c.505G>A	ENSP00000505961.1:p.Val169Ile
ENST00000681037.1:c.505G>A	ENSP00000506025.1:p.Val169Ile
ENST00000681063.1:c.505G>A	ENSP00000506616.1:p.Val169Ile
ENST00000681209.1:c.*269G>A	ENSP00000505877.1:n.*269G>A
ENST00000681278.1:n.862G>A
ENST00000681289.1:n.862G>A
ENST00000681361.1:c.*172G>A	ENSP00000506679.1:n.*172G>A
ENST00000681430.1:c.505G>A	ENSP00000506301.1:p.Val169Ile
ENST00000681446.1:c.*87G>A	ENSP00000506244.1:n.*87G>A
ENST00000681450.1:c.*176G>A	ENSP00000505660.1:n.*176G>A
ENST00000681548.1:c.*91G>A	ENSP00000505275.1:n.*91G>A
ENST00000681616.1:c.*273G>A	ENSP00000505111.1:n.*273G>A
ENST00000681621.1:c.*89G>A	ENSP00000505770.1:n.*89G>A
ENST00000681680.1:n.2629G>A
ENST00000681720.1:c.*55-5790G>A	ENSP00000505438.1:n.*55-5790G>A
ENST00000681730.1:n.727G>A
ENST00000681790.1:c.247G>A	ENSP00000505130.1:p.Val83Ile
ENST00000681837.1:n.1121G>A
ENST00000681913.1:n.2629G>A
ENST00000681916.1:c.*273G>A	ENSP00000506477.1:n.*273G>A
ENST00000681930.1:n.2629G>A
ENST00000370834.9:c.604G>A	ENSP00000359871.5:p.Val202Ile
ENST00000370841.8:c.505G>A	ENSP00000359878.4:p.Val169Ile
ENST00000420607.6:c.517G>A	ENSP00000409612.2:p.Val173Ile
ENST00000525808.5:c.*91G>A	ENSP00000434823.1:n.*91G>A
ENST00000526129.5:c.*289G>A	ENSP00000434092.1:n.*289G>A
ENST00000526196.5:c.*273G>A	ENSP00000431953.1:n.*273G>A
ENST00000526930.1:n.278G>A
ENST00000529059.5:n.414G>A
ENST00000530953.6:c.*2G>A	ENSP00000431372.1:n.*2G>A
ENST00000532509.5:c.*269G>A	ENSP00000432522.1:n.*269G>A
ENST00000534334.5:c.*89G>A	ENSP00000435584.1:n.*89G>A
ENST00000541113.5:c.397G>A	ENSP00000442324.1:p.Val133Ile
NM_000016.5:c.505G>A	NP_000007.1:p.Val169Ile
NM_001127328.2:c.517G>A	NP_001120800.1:p.Val173Ile
NM_001286042.1:c.397G>A	NP_001272971.1:p.Val133Ile
NM_001286043.1:c.604G>A	NP_001272972.1:p.Val202Ile
NM_001286044.1:c.-63G>A	NP_001272973.1:n.-63G>A
NM_000016.6:c.505G>A MANE Select	NP_000007.1:p.Val169Ile
NM_001127328.3:c.517G>A	NP_001120800.1:p.Val173Ile
NM_001286042.2:c.397G>A	NP_001272971.1:p.Val133Ile
NM_001286043.2:c.604G>A	NP_001272972.1:p.Val202Ile
NM_001286044.2:c.-63G>A	NP_001272973.1:n.-63G>A