Canonical Allele Identifier: CA418539992

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76205790T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740105T>C , CM000663.2:g.75740105T>C	GRCh38
NC_000001.10:g.76205790T>C , CM000663.1:g.76205790T>C	GRCh37
NC_000001.9:g.75978378T>C	NCBI36
NG_007045.2:g.20748T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.594T>C MANE Select	ENSP00000359878.5:p.Ala198=
ENST00000473018.3:n.2718T>C
ENST00000541113.6:c.594T>C	ENSP00000442324.2:p.Ala198=
ENST00000679509.1:n.1556T>C
ENST00000679530.1:c.*362T>C	ENSP00000506454.1:n.*362T>C
ENST00000679615.1:n.2718T>C
ENST00000679687.1:c.156T>C	ENSP00000506598.1:p.Ala52=
ENST00000679704.1:c.*360T>C	ENSP00000505117.1:n.*360T>C
ENST00000679709.1:c.*557T>C	ENSP00000506623.1:n.*557T>C
ENST00000679804.1:n.333T>C
ENST00000679976.1:c.*178T>C	ENSP00000505565.1:n.*178T>C
ENST00000680166.1:n.3883T>C
ENST00000680517.1:c.*91T>C	ENSP00000505803.1:n.*91T>C
ENST00000680582.1:n.1556T>C
ENST00000680613.1:c.594T>C	ENSP00000506114.1:p.Ala198=
ENST00000680662.1:c.*508T>C	ENSP00000505080.1:n.*508T>C
ENST00000680691.1:c.*257T>C	ENSP00000506487.1:n.*257T>C
ENST00000680694.1:c.*182T>C	ENSP00000505658.1:n.*182T>C
ENST00000680743.1:c.*261T>C	ENSP00000505073.1:n.*261T>C
ENST00000680749.1:c.594T>C	ENSP00000505122.1:p.Ala198=
ENST00000680798.1:c.*178T>C	ENSP00000505670.1:n.*178T>C
ENST00000680805.1:c.594T>C	ENSP00000505447.1:p.Ala198=
ENST00000680844.1:c.*378T>C	ENSP00000506541.1:n.*378T>C
ENST00000680948.1:c.*461T>C	ENSP00000505441.1:n.*461T>C
ENST00000680964.1:c.594T>C	ENSP00000505961.1:p.Ala198=
ENST00000681037.1:c.594T>C	ENSP00000506025.1:p.Ala198=
ENST00000681063.1:c.594T>C	ENSP00000506616.1:p.Ala198=
ENST00000681209.1:c.*358T>C	ENSP00000505877.1:n.*358T>C
ENST00000681278.1:n.951T>C
ENST00000681289.1:n.951T>C
ENST00000681361.1:c.*261T>C	ENSP00000506679.1:n.*261T>C
ENST00000681430.1:c.594T>C	ENSP00000506301.1:p.Ala198=
ENST00000681446.1:c.*176T>C	ENSP00000506244.1:n.*176T>C
ENST00000681450.1:c.*265T>C	ENSP00000505660.1:n.*265T>C
ENST00000681548.1:c.*180T>C	ENSP00000505275.1:n.*180T>C
ENST00000681616.1:c.*362T>C	ENSP00000505111.1:n.*362T>C
ENST00000681621.1:c.*178T>C	ENSP00000505770.1:n.*178T>C
ENST00000681680.1:n.2718T>C
ENST00000681720.1:c.*55-5701T>C	ENSP00000505438.1:n.*55-5701T>C
ENST00000681730.1:n.816T>C
ENST00000681790.1:c.336T>C	ENSP00000505130.1:p.Ala112=
ENST00000681837.1:n.1210T>C
ENST00000681913.1:n.2718T>C
ENST00000681916.1:c.*362T>C	ENSP00000506477.1:n.*362T>C
ENST00000681930.1:n.2718T>C
ENST00000370834.9:c.693T>C	ENSP00000359871.5:p.Ala231=
ENST00000370841.8:c.594T>C	ENSP00000359878.4:p.Ala198=
ENST00000420607.6:c.606T>C	ENSP00000409612.2:p.Ala202=
ENST00000525808.5:c.*180T>C	ENSP00000434823.1:n.*180T>C
ENST00000526129.5:c.*378T>C	ENSP00000434092.1:n.*378T>C
ENST00000526196.5:c.*362T>C	ENSP00000431953.1:n.*362T>C
ENST00000526930.1:n.367T>C
ENST00000529059.5:n.503T>C
ENST00000530953.6:c.*91T>C	ENSP00000431372.1:n.*91T>C
ENST00000532509.5:c.*358T>C	ENSP00000432522.1:n.*358T>C
ENST00000534334.5:c.*178T>C	ENSP00000435584.1:n.*178T>C
ENST00000541113.5:c.486T>C	ENSP00000442324.1:p.Ala162=
NM_000016.5:c.594T>C	NP_000007.1:p.Ala198=
NM_001127328.2:c.606T>C	NP_001120800.1:p.Ala202=
NM_001286042.1:c.486T>C	NP_001272971.1:p.Ala162=
NM_001286043.1:c.693T>C	NP_001272972.1:p.Ala231=
NM_001286044.1:c.27T>C	NP_001272973.1:p.Ala9=
NM_000016.6:c.594T>C MANE Select	NP_000007.1:p.Ala198=
NM_001127328.3:c.606T>C	NP_001120800.1:p.Ala202=
NM_001286042.2:c.486T>C	NP_001272971.1:p.Ala162=
NM_001286043.2:c.693T>C	NP_001272972.1:p.Ala231=
NM_001286044.2:c.27T>C	NP_001272973.1:p.Ala9=