Canonical Allele Identifier: CA24609317

Gene: ACADM

Linked Data

• dbSNP Id: rs780462716
• MyVariant Identifiers: chr1:g.76226987C>T (hg19) ; chr1:g.75761302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761302C>T , CM000663.2:g.75761302C>T	GRCh38
NC_000001.10:g.76226987C>T , CM000663.1:g.76226987C>T	GRCh37
NC_000001.9:g.75999575C>T	NCBI36
NG_007045.2:g.41945C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1126C>T MANE Select	ENSP00000359878.5:p.Leu376Phe
ENST00000473018.3:n.3250C>T
ENST00000532207.6:n.2137C>T
ENST00000541113.6:c.1030C>T	ENSP00000442324.2:p.Leu344Phe
ENST00000679509.1:n.2088C>T
ENST00000679530.1:c.*894C>T	ENSP00000506454.1:n.*894C>T
ENST00000679615.1:n.3141C>T
ENST00000679687.1:c.688C>T	ENSP00000506598.1:p.Leu230Phe
ENST00000679704.1:c.*892C>T	ENSP00000505117.1:n.*892C>T
ENST00000679709.1:c.*1089C>T	ENSP00000506623.1:n.*1089C>T
ENST00000679976.1:c.*710C>T	ENSP00000505565.1:n.*710C>T
ENST00000680166.1:n.4415C>T
ENST00000680315.1:n.1009C>T
ENST00000680517.1:c.*514C>T	ENSP00000505803.1:n.*514C>T
ENST00000680582.1:n.2088C>T
ENST00000680613.1:c.*619C>T	ENSP00000506114.1:n.*619C>T
ENST00000680662.1:c.*1040C>T	ENSP00000505080.1:n.*1040C>T
ENST00000680691.1:c.*789C>T	ENSP00000506487.1:n.*789C>T
ENST00000680694.1:c.*714C>T	ENSP00000505658.1:n.*714C>T
ENST00000680743.1:c.*915C>T	ENSP00000505073.1:n.*915C>T
ENST00000680749.1:c.*411C>T	ENSP00000505122.1:n.*411C>T
ENST00000680798.1:c.*601C>T	ENSP00000505670.1:n.*601C>T
ENST00000680805.1:c.985C>T	ENSP00000505447.1:p.Leu329Phe
ENST00000680844.1:c.*910C>T	ENSP00000506541.1:n.*910C>T
ENST00000680948.1:c.*993C>T	ENSP00000505441.1:n.*993C>T
ENST00000680964.1:c.*219C>T	ENSP00000505961.1:n.*219C>T
ENST00000681037.1:c.*2610C>T	ENSP00000506025.1:n.*2610C>T
ENST00000681063.1:c.*395C>T	ENSP00000506616.1:n.*395C>T
ENST00000681209.1:c.*781C>T	ENSP00000505877.1:n.*781C>T
ENST00000681278.1:n.1828C>T
ENST00000681289.1:n.5121C>T
ENST00000681361.1:c.*793C>T	ENSP00000506679.1:n.*793C>T
ENST00000681430.1:c.*219C>T	ENSP00000506301.1:n.*219C>T
ENST00000681446.1:c.*830C>T	ENSP00000506244.1:n.*830C>T
ENST00000681450.1:c.*797C>T	ENSP00000505660.1:n.*797C>T
ENST00000681548.1:c.*712C>T	ENSP00000505275.1:n.*712C>T
ENST00000681616.1:c.*785C>T	ENSP00000505111.1:n.*785C>T
ENST00000681621.1:c.*710C>T	ENSP00000505770.1:n.*710C>T
ENST00000681680.1:n.3221C>T
ENST00000681720.1:c.*581C>T	ENSP00000505438.1:n.*581C>T
ENST00000681730.1:n.1348C>T
ENST00000681790.1:c.868C>T	ENSP00000505130.1:p.Leu290Phe
ENST00000681837.1:n.1742C>T
ENST00000681913.1:n.3372C>T
ENST00000681916.1:c.*894C>T	ENSP00000506477.1:n.*894C>T
ENST00000681930.1:n.3250C>T
ENST00000370834.9:c.1225C>T	ENSP00000359871.5:p.Leu409Phe
ENST00000370841.8:c.1126C>T	ENSP00000359878.4:p.Leu376Phe
ENST00000420607.6:c.1138C>T	ENSP00000409612.2:p.Leu380Phe
ENST00000481374.1:n.399C>T
ENST00000525808.5:c.*712C>T	ENSP00000434823.1:n.*712C>T
ENST00000526129.5:c.*910C>T	ENSP00000434092.1:n.*910C>T
ENST00000526196.5:c.*894C>T	ENSP00000431953.1:n.*894C>T
ENST00000528016.1:c.160-7875C>T	ENSP00000434284.1:n.160-7875C>T
ENST00000529059.5:n.1035C>T
ENST00000541113.5:c.1018C>T	ENSP00000442324.1:p.Leu340Phe
NM_000016.5:c.1126C>T	NP_000007.1:p.Leu376Phe
NM_001127328.2:c.1138C>T	NP_001120800.1:p.Leu380Phe
NM_001286042.1:c.1018C>T	NP_001272971.1:p.Leu340Phe
NM_001286043.1:c.1225C>T	NP_001272972.1:p.Leu409Phe
NM_001286044.1:c.559C>T	NP_001272973.1:p.Leu187Phe
NM_000016.6:c.1126C>T MANE Select	NP_000007.1:p.Leu376Phe
NM_001127328.3:c.1138C>T	NP_001120800.1:p.Leu380Phe
NM_001286042.2:c.1018C>T	NP_001272971.1:p.Leu340Phe
NM_001286043.2:c.1225C>T	NP_001272972.1:p.Leu409Phe
NM_001286044.2:c.559C>T	NP_001272973.1:p.Leu187Phe