Canonical Allele Identifier: CA340818204

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2823139
• ClinVar RCV Id: RCV003610329
• MyVariant Identifiers: chr1:g.76226978G>A (hg19) ; chr1:g.75761293G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1117G>A MANE Select	ENSP00000359878.5:p.Val373Met
ENST00000473018.3:n.3241G>A
ENST00000532207.6:n.2128G>A
ENST00000541113.6:c.1021G>A	ENSP00000442324.2:p.Val341Met
ENST00000679509.1:n.2079G>A
ENST00000679530.1:c.*885G>A	ENSP00000506454.1:n.*885G>A
ENST00000679615.1:n.3132G>A
ENST00000679687.1:c.679G>A	ENSP00000506598.1:p.Val227Met
ENST00000679704.1:c.*883G>A	ENSP00000505117.1:n.*883G>A
ENST00000679709.1:c.*1080G>A	ENSP00000506623.1:n.*1080G>A
ENST00000679976.1:c.*701G>A	ENSP00000505565.1:n.*701G>A
ENST00000680166.1:n.4406G>A
ENST00000680315.1:n.1000G>A
ENST00000680517.1:c.*505G>A	ENSP00000505803.1:n.*505G>A
ENST00000680582.1:n.2079G>A
ENST00000680613.1:c.*610G>A	ENSP00000506114.1:n.*610G>A
ENST00000680662.1:c.*1031G>A	ENSP00000505080.1:n.*1031G>A
ENST00000680691.1:c.*780G>A	ENSP00000506487.1:n.*780G>A
ENST00000680694.1:c.*705G>A	ENSP00000505658.1:n.*705G>A
ENST00000680743.1:c.*906G>A	ENSP00000505073.1:n.*906G>A
ENST00000680749.1:c.*402G>A	ENSP00000505122.1:n.*402G>A
ENST00000680798.1:c.*592G>A	ENSP00000505670.1:n.*592G>A
ENST00000680805.1:c.976G>A	ENSP00000505447.1:p.Val326Met
ENST00000680844.1:c.*901G>A	ENSP00000506541.1:n.*901G>A
ENST00000680948.1:c.*984G>A	ENSP00000505441.1:n.*984G>A
ENST00000680964.1:c.*210G>A	ENSP00000505961.1:n.*210G>A
ENST00000681037.1:c.*2601G>A	ENSP00000506025.1:n.*2601G>A
ENST00000681063.1:c.*386G>A	ENSP00000506616.1:n.*386G>A
ENST00000681209.1:c.*772G>A	ENSP00000505877.1:n.*772G>A
ENST00000681278.1:n.1819G>A
ENST00000681289.1:n.5112G>A
ENST00000681361.1:c.*784G>A	ENSP00000506679.1:n.*784G>A
ENST00000681430.1:c.*210G>A	ENSP00000506301.1:n.*210G>A
ENST00000681446.1:c.*821G>A	ENSP00000506244.1:n.*821G>A
ENST00000681450.1:c.*788G>A	ENSP00000505660.1:n.*788G>A
ENST00000681548.1:c.*703G>A	ENSP00000505275.1:n.*703G>A
ENST00000681616.1:c.*776G>A	ENSP00000505111.1:n.*776G>A
ENST00000681621.1:c.*701G>A	ENSP00000505770.1:n.*701G>A
ENST00000681680.1:n.3212G>A
ENST00000681720.1:c.*572G>A	ENSP00000505438.1:n.*572G>A
ENST00000681730.1:n.1339G>A
ENST00000681790.1:c.859G>A	ENSP00000505130.1:p.Val287Met
ENST00000681837.1:n.1733G>A
ENST00000681913.1:n.3363G>A
ENST00000681916.1:c.*885G>A	ENSP00000506477.1:n.*885G>A
ENST00000681930.1:n.3241G>A
ENST00000370834.9:c.1216G>A	ENSP00000359871.5:p.Val406Met
ENST00000370841.8:c.1117G>A	ENSP00000359878.4:p.Val373Met
ENST00000420607.6:c.1129G>A	ENSP00000409612.2:p.Val377Met
ENST00000481374.1:n.390G>A
ENST00000525808.5:c.*703G>A	ENSP00000434823.1:n.*703G>A
ENST00000526129.5:c.*901G>A	ENSP00000434092.1:n.*901G>A
ENST00000526196.5:c.*885G>A	ENSP00000431953.1:n.*885G>A
ENST00000528016.1:c.160-7884G>A	ENSP00000434284.1:n.160-7884G>A
ENST00000529059.5:n.1026G>A
ENST00000541113.5:c.1009G>A	ENSP00000442324.1:p.Val337Met
NM_000016.5:c.1117G>A	NP_000007.1:p.Val373Met
NM_001127328.2:c.1129G>A	NP_001120800.1:p.Val377Met
NM_001286042.1:c.1009G>A	NP_001272971.1:p.Val337Met
NM_001286043.1:c.1216G>A	NP_001272972.1:p.Val406Met
NM_001286044.1:c.550G>A	NP_001272973.1:p.Val184Met
NM_000016.6:c.1117G>A MANE Select	NP_000007.1:p.Val373Met
NM_001127328.3:c.1129G>A	NP_001120800.1:p.Val377Met
NM_001286042.2:c.1009G>A	NP_001272971.1:p.Val337Met
NM_001286043.2:c.1216G>A	NP_001272972.1:p.Val406Met
NM_001286044.2:c.550G>A	NP_001272973.1:p.Val184Met