Canonical Allele Identifier: CA340814843

Gene: ACADM

Linked Data

• gnomAD v4: 1-75739990-T-A
• MyVariant Identifiers: chr1:g.76205675T>A (hg19) ; chr1:g.75739990T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75739990T>A , CM000663.2:g.75739990T>A	GRCh38
NC_000001.10:g.76205675T>A , CM000663.1:g.76205675T>A	GRCh37
NC_000001.9:g.75978263T>A	NCBI36
NG_007045.2:g.20633T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.479T>A MANE Select	ENSP00000359878.5:p.Val160Glu
ENST00000473018.3:n.2603T>A
ENST00000541113.6:c.479T>A	ENSP00000442324.2:p.Val160Glu
ENST00000679509.1:n.1441T>A
ENST00000679530.1:c.*247T>A	ENSP00000506454.1:n.*247T>A
ENST00000679615.1:n.2603T>A
ENST00000679687.1:c.41T>A	ENSP00000506598.1:p.Val14Glu
ENST00000679704.1:c.*245T>A	ENSP00000505117.1:n.*245T>A
ENST00000679709.1:c.*442T>A	ENSP00000506623.1:n.*442T>A
ENST00000679804.1:n.218T>A
ENST00000679976.1:c.*63T>A	ENSP00000505565.1:n.*63T>A
ENST00000680166.1:n.3768T>A
ENST00000680517.1:c.297T>A	ENSP00000505803.1:p.Cys99Ter
ENST00000680582.1:n.1441T>A
ENST00000680613.1:c.479T>A	ENSP00000506114.1:p.Val160Glu
ENST00000680662.1:c.*393T>A	ENSP00000505080.1:n.*393T>A
ENST00000680691.1:c.*142T>A	ENSP00000506487.1:n.*142T>A
ENST00000680694.1:c.*67T>A	ENSP00000505658.1:n.*67T>A
ENST00000680743.1:c.*146T>A	ENSP00000505073.1:n.*146T>A
ENST00000680749.1:c.479T>A	ENSP00000505122.1:p.Val160Glu
ENST00000680798.1:c.*63T>A	ENSP00000505670.1:n.*63T>A
ENST00000680805.1:c.479T>A	ENSP00000505447.1:p.Val160Glu
ENST00000680844.1:c.*263T>A	ENSP00000506541.1:n.*263T>A
ENST00000680948.1:c.*346T>A	ENSP00000505441.1:n.*346T>A
ENST00000680964.1:c.479T>A	ENSP00000505961.1:p.Val160Glu
ENST00000681037.1:c.479T>A	ENSP00000506025.1:p.Val160Glu
ENST00000681063.1:c.479T>A	ENSP00000506616.1:p.Val160Glu
ENST00000681209.1:c.*243T>A	ENSP00000505877.1:n.*243T>A
ENST00000681278.1:n.836T>A
ENST00000681289.1:n.836T>A
ENST00000681361.1:c.*146T>A	ENSP00000506679.1:n.*146T>A
ENST00000681430.1:c.479T>A	ENSP00000506301.1:p.Val160Glu
ENST00000681446.1:c.*61T>A	ENSP00000506244.1:n.*61T>A
ENST00000681450.1:c.*150T>A	ENSP00000505660.1:n.*150T>A
ENST00000681548.1:c.*65T>A	ENSP00000505275.1:n.*65T>A
ENST00000681616.1:c.*247T>A	ENSP00000505111.1:n.*247T>A
ENST00000681621.1:c.*63T>A	ENSP00000505770.1:n.*63T>A
ENST00000681680.1:n.2603T>A
ENST00000681720.1:c.*55-5816T>A	ENSP00000505438.1:n.*55-5816T>A
ENST00000681730.1:n.701T>A
ENST00000681790.1:c.221T>A	ENSP00000505130.1:p.Val74Glu
ENST00000681837.1:n.1095T>A
ENST00000681913.1:n.2603T>A
ENST00000681916.1:c.*247T>A	ENSP00000506477.1:n.*247T>A
ENST00000681930.1:n.2603T>A
ENST00000370834.9:c.578T>A	ENSP00000359871.5:p.Val193Glu
ENST00000370841.8:c.479T>A	ENSP00000359878.4:p.Val160Glu
ENST00000420607.6:c.491T>A	ENSP00000409612.2:p.Val164Glu
ENST00000525808.5:c.*65T>A	ENSP00000434823.1:n.*65T>A
ENST00000526129.5:c.*263T>A	ENSP00000434092.1:n.*263T>A
ENST00000526196.5:c.*247T>A	ENSP00000431953.1:n.*247T>A
ENST00000526930.1:n.252T>A
ENST00000529059.5:n.388T>A
ENST00000530953.6:c.129T>A	ENSP00000431372.1:p.Cys43Ter
ENST00000532509.5:c.*243T>A	ENSP00000432522.1:n.*243T>A
ENST00000534334.5:c.*63T>A	ENSP00000435584.1:n.*63T>A
ENST00000541113.5:c.371T>A	ENSP00000442324.1:p.Val124Glu
NM_000016.5:c.479T>A	NP_000007.1:p.Val160Glu
NM_001127328.2:c.491T>A	NP_001120800.1:p.Val164Glu
NM_001286042.1:c.371T>A	NP_001272971.1:p.Val124Glu
NM_001286043.1:c.578T>A	NP_001272972.1:p.Val193Glu
NM_001286044.1:c.-89T>A	NP_001272973.1:n.-89T>A
NM_000016.6:c.479T>A MANE Select	NP_000007.1:p.Val160Glu
NM_001127328.3:c.491T>A	NP_001120800.1:p.Val164Glu
NM_001286042.2:c.371T>A	NP_001272971.1:p.Val124Glu
NM_001286043.2:c.578T>A	NP_001272972.1:p.Val193Glu
NM_001286044.2:c.-89T>A	NP_001272973.1:n.-89T>A