Canonical Allele Identifier: CA340817989

Gene: ACADM

Linked Data

• COSMIC: COSM4845608 ; COSM4845609
• MyVariant Identifiers: chr1:g.76226875G>T (hg19) ; chr1:g.75761190G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761190G>T , CM000663.2:g.75761190G>T	GRCh38
NC_000001.10:g.76226875G>T , CM000663.1:g.76226875G>T	GRCh37
NC_000001.9:g.75999463G>T	NCBI36
NG_007045.2:g.41833G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1014G>T MANE Select	ENSP00000359878.5:p.Gln338His
ENST00000473018.3:n.3138G>T
ENST00000532207.6:n.2025G>T
ENST00000541113.6:c.918G>T	ENSP00000442324.2:p.Gln306His
ENST00000679509.1:n.1976G>T
ENST00000679530.1:c.*782G>T	ENSP00000506454.1:n.*782G>T
ENST00000679615.1:n.3029G>T
ENST00000679687.1:c.576G>T	ENSP00000506598.1:p.Gln192His
ENST00000679704.1:c.*780G>T	ENSP00000505117.1:n.*780G>T
ENST00000679709.1:c.*977G>T	ENSP00000506623.1:n.*977G>T
ENST00000679976.1:c.*598G>T	ENSP00000505565.1:n.*598G>T
ENST00000680166.1:n.4303G>T
ENST00000680315.1:n.897G>T
ENST00000680517.1:c.*402G>T	ENSP00000505803.1:n.*402G>T
ENST00000680582.1:n.1976G>T
ENST00000680613.1:c.*507G>T	ENSP00000506114.1:n.*507G>T
ENST00000680662.1:c.*928G>T	ENSP00000505080.1:n.*928G>T
ENST00000680691.1:c.*677G>T	ENSP00000506487.1:n.*677G>T
ENST00000680694.1:c.*602G>T	ENSP00000505658.1:n.*602G>T
ENST00000680743.1:c.*803G>T	ENSP00000505073.1:n.*803G>T
ENST00000680749.1:c.*299G>T	ENSP00000505122.1:n.*299G>T
ENST00000680798.1:c.*489G>T	ENSP00000505670.1:n.*489G>T
ENST00000680805.1:c.873G>T	ENSP00000505447.1:p.Gln291His
ENST00000680844.1:c.*798G>T	ENSP00000506541.1:n.*798G>T
ENST00000680948.1:c.*881G>T	ENSP00000505441.1:n.*881G>T
ENST00000680964.1:c.*107G>T	ENSP00000505961.1:n.*107G>T
ENST00000681037.1:c.*2498G>T	ENSP00000506025.1:n.*2498G>T
ENST00000681063.1:c.*283G>T	ENSP00000506616.1:n.*283G>T
ENST00000681209.1:c.*669G>T	ENSP00000505877.1:n.*669G>T
ENST00000681278.1:n.1716G>T
ENST00000681289.1:n.5009G>T
ENST00000681361.1:c.*681G>T	ENSP00000506679.1:n.*681G>T
ENST00000681430.1:c.*107G>T	ENSP00000506301.1:n.*107G>T
ENST00000681446.1:c.*718G>T	ENSP00000506244.1:n.*718G>T
ENST00000681450.1:c.*685G>T	ENSP00000505660.1:n.*685G>T
ENST00000681548.1:c.*600G>T	ENSP00000505275.1:n.*600G>T
ENST00000681616.1:c.*673G>T	ENSP00000505111.1:n.*673G>T
ENST00000681621.1:c.*598G>T	ENSP00000505770.1:n.*598G>T
ENST00000681680.1:n.3109G>T
ENST00000681720.1:c.*469G>T	ENSP00000505438.1:n.*469G>T
ENST00000681730.1:n.1236G>T
ENST00000681790.1:c.756G>T	ENSP00000505130.1:p.Gln252His
ENST00000681837.1:n.1630G>T
ENST00000681913.1:n.3260G>T
ENST00000681916.1:c.*782G>T	ENSP00000506477.1:n.*782G>T
ENST00000681930.1:n.3138G>T
ENST00000370834.9:c.1113G>T	ENSP00000359871.5:p.Gln371His
ENST00000370841.8:c.1014G>T	ENSP00000359878.4:p.Gln338His
ENST00000420607.6:c.1026G>T	ENSP00000409612.2:p.Gln342His
ENST00000481374.1:n.287G>T
ENST00000525808.5:c.*600G>T	ENSP00000434823.1:n.*600G>T
ENST00000526129.5:c.*798G>T	ENSP00000434092.1:n.*798G>T
ENST00000526196.5:c.*782G>T	ENSP00000431953.1:n.*782G>T
ENST00000528016.1:c.160-7987G>T	ENSP00000434284.1:n.160-7987G>T
ENST00000529059.5:n.923G>T
ENST00000532207.5:n.744G>T
ENST00000534334.5:c.*755G>T	ENSP00000435584.1:n.*755G>T
ENST00000541113.5:c.906G>T	ENSP00000442324.1:p.Gln302His
NM_000016.5:c.1014G>T	NP_000007.1:p.Gln338His
NM_001127328.2:c.1026G>T	NP_001120800.1:p.Gln342His
NM_001286042.1:c.906G>T	NP_001272971.1:p.Gln302His
NM_001286043.1:c.1113G>T	NP_001272972.1:p.Gln371His
NM_001286044.1:c.447G>T	NP_001272973.1:p.Gln149His
NM_000016.6:c.1014G>T MANE Select	NP_000007.1:p.Gln338His
NM_001127328.3:c.1026G>T	NP_001120800.1:p.Gln342His
NM_001286042.2:c.906G>T	NP_001272971.1:p.Gln302His
NM_001286043.2:c.1113G>T	NP_001272972.1:p.Gln371His
NM_001286044.2:c.447G>T	NP_001272973.1:p.Gln149His