Canonical Allele Identifier: CA340818202

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2093359
• ClinVar RCV Id: RCV003010019
• MyVariant Identifiers: chr1:g.76226978G>C (hg19) ; chr1:g.75761293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761293G>C , CM000663.2:g.75761293G>C	GRCh38
NC_000001.10:g.76226978G>C , CM000663.1:g.76226978G>C	GRCh37
NC_000001.9:g.75999566G>C	NCBI36
NG_007045.2:g.41936G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1117G>C MANE Select	ENSP00000359878.5:p.Val373Leu
ENST00000473018.3:n.3241G>C
ENST00000532207.6:n.2128G>C
ENST00000541113.6:c.1021G>C	ENSP00000442324.2:p.Val341Leu
ENST00000679509.1:n.2079G>C
ENST00000679530.1:c.*885G>C	ENSP00000506454.1:n.*885G>C
ENST00000679615.1:n.3132G>C
ENST00000679687.1:c.679G>C	ENSP00000506598.1:p.Val227Leu
ENST00000679704.1:c.*883G>C	ENSP00000505117.1:n.*883G>C
ENST00000679709.1:c.*1080G>C	ENSP00000506623.1:n.*1080G>C
ENST00000679976.1:c.*701G>C	ENSP00000505565.1:n.*701G>C
ENST00000680166.1:n.4406G>C
ENST00000680315.1:n.1000G>C
ENST00000680517.1:c.*505G>C	ENSP00000505803.1:n.*505G>C
ENST00000680582.1:n.2079G>C
ENST00000680613.1:c.*610G>C	ENSP00000506114.1:n.*610G>C
ENST00000680662.1:c.*1031G>C	ENSP00000505080.1:n.*1031G>C
ENST00000680691.1:c.*780G>C	ENSP00000506487.1:n.*780G>C
ENST00000680694.1:c.*705G>C	ENSP00000505658.1:n.*705G>C
ENST00000680743.1:c.*906G>C	ENSP00000505073.1:n.*906G>C
ENST00000680749.1:c.*402G>C	ENSP00000505122.1:n.*402G>C
ENST00000680798.1:c.*592G>C	ENSP00000505670.1:n.*592G>C
ENST00000680805.1:c.976G>C	ENSP00000505447.1:p.Val326Leu
ENST00000680844.1:c.*901G>C	ENSP00000506541.1:n.*901G>C
ENST00000680948.1:c.*984G>C	ENSP00000505441.1:n.*984G>C
ENST00000680964.1:c.*210G>C	ENSP00000505961.1:n.*210G>C
ENST00000681037.1:c.*2601G>C	ENSP00000506025.1:n.*2601G>C
ENST00000681063.1:c.*386G>C	ENSP00000506616.1:n.*386G>C
ENST00000681209.1:c.*772G>C	ENSP00000505877.1:n.*772G>C
ENST00000681278.1:n.1819G>C
ENST00000681289.1:n.5112G>C
ENST00000681361.1:c.*784G>C	ENSP00000506679.1:n.*784G>C
ENST00000681430.1:c.*210G>C	ENSP00000506301.1:n.*210G>C
ENST00000681446.1:c.*821G>C	ENSP00000506244.1:n.*821G>C
ENST00000681450.1:c.*788G>C	ENSP00000505660.1:n.*788G>C
ENST00000681548.1:c.*703G>C	ENSP00000505275.1:n.*703G>C
ENST00000681616.1:c.*776G>C	ENSP00000505111.1:n.*776G>C
ENST00000681621.1:c.*701G>C	ENSP00000505770.1:n.*701G>C
ENST00000681680.1:n.3212G>C
ENST00000681720.1:c.*572G>C	ENSP00000505438.1:n.*572G>C
ENST00000681730.1:n.1339G>C
ENST00000681790.1:c.859G>C	ENSP00000505130.1:p.Val287Leu
ENST00000681837.1:n.1733G>C
ENST00000681913.1:n.3363G>C
ENST00000681916.1:c.*885G>C	ENSP00000506477.1:n.*885G>C
ENST00000681930.1:n.3241G>C
ENST00000370834.9:c.1216G>C	ENSP00000359871.5:p.Val406Leu
ENST00000370841.8:c.1117G>C	ENSP00000359878.4:p.Val373Leu
ENST00000420607.6:c.1129G>C	ENSP00000409612.2:p.Val377Leu
ENST00000481374.1:n.390G>C
ENST00000525808.5:c.*703G>C	ENSP00000434823.1:n.*703G>C
ENST00000526129.5:c.*901G>C	ENSP00000434092.1:n.*901G>C
ENST00000526196.5:c.*885G>C	ENSP00000431953.1:n.*885G>C
ENST00000528016.1:c.160-7884G>C	ENSP00000434284.1:n.160-7884G>C
ENST00000529059.5:n.1026G>C
ENST00000541113.5:c.1009G>C	ENSP00000442324.1:p.Val337Leu
NM_000016.5:c.1117G>C	NP_000007.1:p.Val373Leu
NM_001127328.2:c.1129G>C	NP_001120800.1:p.Val377Leu
NM_001286042.1:c.1009G>C	NP_001272971.1:p.Val337Leu
NM_001286043.1:c.1216G>C	NP_001272972.1:p.Val406Leu
NM_001286044.1:c.550G>C	NP_001272973.1:p.Val184Leu
NM_000016.6:c.1117G>C MANE Select	NP_000007.1:p.Val373Leu
NM_001127328.3:c.1129G>C	NP_001120800.1:p.Val377Leu
NM_001286042.2:c.1009G>C	NP_001272971.1:p.Val337Leu
NM_001286043.2:c.1216G>C	NP_001272972.1:p.Val406Leu
NM_001286044.2:c.550G>C	NP_001272973.1:p.Val184Leu