Canonical Allele Identifier: CA340818280

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227014T>C (hg19) ; chr1:g.75761329T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761329T>C , CM000663.2:g.75761329T>C	GRCh38
NC_000001.10:g.76227014T>C , CM000663.1:g.76227014T>C	GRCh37
NC_000001.9:g.75999602T>C	NCBI36
NG_007045.2:g.41972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1153T>C MANE Select	ENSP00000359878.5:p.Tyr385His
ENST00000473018.3:n.3277T>C
ENST00000532207.6:n.2164T>C
ENST00000541113.6:c.1057T>C	ENSP00000442324.2:p.Tyr353His
ENST00000679509.1:n.2115T>C
ENST00000679530.1:c.*921T>C	ENSP00000506454.1:n.*921T>C
ENST00000679615.1:n.3168T>C
ENST00000679687.1:c.715T>C	ENSP00000506598.1:p.Tyr239His
ENST00000679704.1:c.*919T>C	ENSP00000505117.1:n.*919T>C
ENST00000679709.1:c.*1116T>C	ENSP00000506623.1:n.*1116T>C
ENST00000679976.1:c.*737T>C	ENSP00000505565.1:n.*737T>C
ENST00000680166.1:n.4442T>C
ENST00000680315.1:n.1036T>C
ENST00000680517.1:c.*541T>C	ENSP00000505803.1:n.*541T>C
ENST00000680582.1:n.2115T>C
ENST00000680613.1:c.*646T>C	ENSP00000506114.1:n.*646T>C
ENST00000680662.1:c.*1067T>C	ENSP00000505080.1:n.*1067T>C
ENST00000680691.1:c.*816T>C	ENSP00000506487.1:n.*816T>C
ENST00000680694.1:c.*741T>C	ENSP00000505658.1:n.*741T>C
ENST00000680743.1:c.*942T>C	ENSP00000505073.1:n.*942T>C
ENST00000680749.1:c.*438T>C	ENSP00000505122.1:n.*438T>C
ENST00000680798.1:c.*628T>C	ENSP00000505670.1:n.*628T>C
ENST00000680805.1:c.1012T>C	ENSP00000505447.1:p.Tyr338His
ENST00000680844.1:c.*937T>C	ENSP00000506541.1:n.*937T>C
ENST00000680948.1:c.*1020T>C	ENSP00000505441.1:n.*1020T>C
ENST00000680964.1:c.*246T>C	ENSP00000505961.1:n.*246T>C
ENST00000681037.1:c.*2637T>C	ENSP00000506025.1:n.*2637T>C
ENST00000681063.1:c.*422T>C	ENSP00000506616.1:n.*422T>C
ENST00000681209.1:c.*808T>C	ENSP00000505877.1:n.*808T>C
ENST00000681278.1:n.1855T>C
ENST00000681289.1:n.5148T>C
ENST00000681361.1:c.*820T>C	ENSP00000506679.1:n.*820T>C
ENST00000681430.1:c.*246T>C	ENSP00000506301.1:n.*246T>C
ENST00000681446.1:c.*857T>C	ENSP00000506244.1:n.*857T>C
ENST00000681450.1:c.*824T>C	ENSP00000505660.1:n.*824T>C
ENST00000681548.1:c.*739T>C	ENSP00000505275.1:n.*739T>C
ENST00000681616.1:c.*812T>C	ENSP00000505111.1:n.*812T>C
ENST00000681621.1:c.*737T>C	ENSP00000505770.1:n.*737T>C
ENST00000681680.1:n.3248T>C
ENST00000681720.1:c.*608T>C	ENSP00000505438.1:n.*608T>C
ENST00000681730.1:n.1375T>C
ENST00000681790.1:c.895T>C	ENSP00000505130.1:p.Tyr299His
ENST00000681837.1:n.1769T>C
ENST00000681913.1:n.3399T>C
ENST00000681916.1:c.*921T>C	ENSP00000506477.1:n.*921T>C
ENST00000681930.1:n.3277T>C
ENST00000370834.9:c.1252T>C	ENSP00000359871.5:p.Tyr418His
ENST00000370841.8:c.1153T>C	ENSP00000359878.4:p.Tyr385His
ENST00000420607.6:c.1165T>C	ENSP00000409612.2:p.Tyr389His
ENST00000481374.1:n.426T>C
ENST00000525808.5:c.*739T>C	ENSP00000434823.1:n.*739T>C
ENST00000526129.5:c.*937T>C	ENSP00000434092.1:n.*937T>C
ENST00000526196.5:c.*921T>C	ENSP00000431953.1:n.*921T>C
ENST00000528016.1:c.160-7848T>C	ENSP00000434284.1:n.160-7848T>C
ENST00000529059.5:n.1062T>C
ENST00000541113.5:c.1045T>C	ENSP00000442324.1:p.Tyr349His
NM_000016.5:c.1153T>C	NP_000007.1:p.Tyr385His
NM_001127328.2:c.1165T>C	NP_001120800.1:p.Tyr389His
NM_001286042.1:c.1045T>C	NP_001272971.1:p.Tyr349His
NM_001286043.1:c.1252T>C	NP_001272972.1:p.Tyr418His
NM_001286044.1:c.586T>C	NP_001272973.1:p.Tyr196His
NM_000016.6:c.1153T>C MANE Select	NP_000007.1:p.Tyr385His
NM_001127328.3:c.1165T>C	NP_001120800.1:p.Tyr389His
NM_001286042.2:c.1045T>C	NP_001272971.1:p.Tyr349His
NM_001286043.2:c.1252T>C	NP_001272972.1:p.Tyr418His
NM_001286044.2:c.586T>C	NP_001272973.1:p.Tyr196His