Canonical Allele Identifier: CA340816764

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215209G>T (hg19) ; chr1:g.75749524G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749524G>T , CM000663.2:g.75749524G>T	GRCh38
NC_000001.10:g.76215209G>T , CM000663.1:g.76215209G>T	GRCh37
NC_000001.9:g.75987797G>T	NCBI36
NG_007045.2:g.30167G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.814G>T MANE Select	ENSP00000359878.5:p.Val272Phe
ENST00000473018.3:n.2938G>T
ENST00000532207.6:n.1703G>T
ENST00000541113.6:c.814G>T	ENSP00000442324.2:p.Val272Phe
ENST00000679509.1:n.1776G>T
ENST00000679530.1:c.*582G>T	ENSP00000506454.1:n.*582G>T
ENST00000679615.1:n.2829G>T
ENST00000679687.1:c.376G>T	ENSP00000506598.1:p.Val126Phe
ENST00000679704.1:c.*580G>T	ENSP00000505117.1:n.*580G>T
ENST00000679709.1:c.*777G>T	ENSP00000506623.1:n.*777G>T
ENST00000679976.1:c.*398G>T	ENSP00000505565.1:n.*398G>T
ENST00000680166.1:n.4103G>T
ENST00000680517.1:c.*202G>T	ENSP00000505803.1:n.*202G>T
ENST00000680582.1:n.1776G>T
ENST00000680613.1:c.*185G>T	ENSP00000506114.1:n.*185G>T
ENST00000680662.1:c.*728G>T	ENSP00000505080.1:n.*728G>T
ENST00000680691.1:c.*477G>T	ENSP00000506487.1:n.*477G>T
ENST00000680694.1:c.*402G>T	ENSP00000505658.1:n.*402G>T
ENST00000680743.1:c.*481G>T	ENSP00000505073.1:n.*481G>T
ENST00000680749.1:c.*99G>T	ENSP00000505122.1:n.*99G>T
ENST00000680798.1:c.*289G>T	ENSP00000505670.1:n.*289G>T
ENST00000680805.1:c.709-927G>T	ENSP00000505447.1:n.709-927G>T
ENST00000680844.1:c.*598G>T	ENSP00000506541.1:n.*598G>T
ENST00000680948.1:c.*681G>T	ENSP00000505441.1:n.*681G>T
ENST00000680964.1:c.814G>T	ENSP00000505961.1:p.Val272Phe
ENST00000681037.1:c.*2298G>T	ENSP00000506025.1:n.*2298G>T
ENST00000681063.1:c.600-927G>T	ENSP00000506616.1:n.600-927G>T
ENST00000681209.1:c.*469G>T	ENSP00000505877.1:n.*469G>T
ENST00000681278.1:n.1171G>T
ENST00000681289.1:n.4809G>T
ENST00000681361.1:c.*481G>T	ENSP00000506679.1:n.*481G>T
ENST00000681430.1:c.814G>T	ENSP00000506301.1:p.Val272Phe
ENST00000681446.1:c.*396G>T	ENSP00000506244.1:n.*396G>T
ENST00000681450.1:c.*485G>T	ENSP00000505660.1:n.*485G>T
ENST00000681548.1:c.*400G>T	ENSP00000505275.1:n.*400G>T
ENST00000681616.1:c.*473G>T	ENSP00000505111.1:n.*473G>T
ENST00000681621.1:c.*398G>T	ENSP00000505770.1:n.*398G>T
ENST00000681680.1:n.2909G>T
ENST00000681720.1:c.*269G>T	ENSP00000505438.1:n.*269G>T
ENST00000681730.1:n.1036G>T
ENST00000681790.1:c.556G>T	ENSP00000505130.1:p.Val186Phe
ENST00000681837.1:n.1430G>T
ENST00000681913.1:n.2938G>T
ENST00000681916.1:c.*582G>T	ENSP00000506477.1:n.*582G>T
ENST00000681930.1:n.2938G>T
ENST00000370834.9:c.913G>T	ENSP00000359871.5:p.Val305Phe
ENST00000370841.8:c.814G>T	ENSP00000359878.4:p.Val272Phe
ENST00000420607.6:c.826G>T	ENSP00000409612.2:p.Val276Phe
ENST00000525808.5:c.*400G>T	ENSP00000434823.1:n.*400G>T
ENST00000526129.5:c.*598G>T	ENSP00000434092.1:n.*598G>T
ENST00000526196.5:c.*582G>T	ENSP00000431953.1:n.*582G>T
ENST00000528016.1:c.28G>T	ENSP00000434284.1:p.Val10Phe
ENST00000529059.5:n.723G>T
ENST00000530953.6:c.*311G>T	ENSP00000431372.1:n.*311G>T
ENST00000532207.5:n.544G>T
ENST00000532509.5:c.*578G>T	ENSP00000432522.1:n.*578G>T
ENST00000534334.5:c.*398G>T	ENSP00000435584.1:n.*398G>T
ENST00000541113.5:c.706G>T	ENSP00000442324.1:p.Val236Phe
NM_000016.5:c.814G>T	NP_000007.1:p.Val272Phe
NM_001127328.2:c.826G>T	NP_001120800.1:p.Val276Phe
NM_001286042.1:c.706G>T	NP_001272971.1:p.Val236Phe
NM_001286043.1:c.913G>T	NP_001272972.1:p.Val305Phe
NM_001286044.1:c.247G>T	NP_001272973.1:p.Val83Phe
NM_000016.6:c.814G>T MANE Select	NP_000007.1:p.Val272Phe
NM_001127328.3:c.826G>T	NP_001120800.1:p.Val276Phe
NM_001286042.2:c.706G>T	NP_001272971.1:p.Val236Phe
NM_001286043.2:c.913G>T	NP_001272972.1:p.Val305Phe
NM_001286044.2:c.247G>T	NP_001272973.1:p.Val83Phe