Canonical Allele Identifier: CA340815208

Gene: ACADM

Linked Data

• gnomAD v4: 1-75740052-G-C
• MyVariant Identifiers: chr1:g.76205737G>C (hg19) ; chr1:g.75740052G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740052G>C , CM000663.2:g.75740052G>C	GRCh38
NC_000001.10:g.76205737G>C , CM000663.1:g.76205737G>C	GRCh37
NC_000001.9:g.75978325G>C	NCBI36
NG_007045.2:g.20695G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.541G>C MANE Select	ENSP00000359878.5:p.Asp181His
ENST00000473018.3:n.2665G>C
ENST00000541113.6:c.541G>C	ENSP00000442324.2:p.Asp181His
ENST00000679509.1:n.1503G>C
ENST00000679530.1:c.*309G>C	ENSP00000506454.1:n.*309G>C
ENST00000679615.1:n.2665G>C
ENST00000679687.1:c.103G>C	ENSP00000506598.1:p.Asp35His
ENST00000679704.1:c.*307G>C	ENSP00000505117.1:n.*307G>C
ENST00000679709.1:c.*504G>C	ENSP00000506623.1:n.*504G>C
ENST00000679804.1:n.280G>C
ENST00000679976.1:c.*125G>C	ENSP00000505565.1:n.*125G>C
ENST00000680166.1:n.3830G>C
ENST00000680517.1:c.*38G>C	ENSP00000505803.1:n.*38G>C
ENST00000680582.1:n.1503G>C
ENST00000680613.1:c.541G>C	ENSP00000506114.1:p.Asp181His
ENST00000680662.1:c.*455G>C	ENSP00000505080.1:n.*455G>C
ENST00000680691.1:c.*204G>C	ENSP00000506487.1:n.*204G>C
ENST00000680694.1:c.*129G>C	ENSP00000505658.1:n.*129G>C
ENST00000680743.1:c.*208G>C	ENSP00000505073.1:n.*208G>C
ENST00000680749.1:c.541G>C	ENSP00000505122.1:p.Asp181His
ENST00000680798.1:c.*125G>C	ENSP00000505670.1:n.*125G>C
ENST00000680805.1:c.541G>C	ENSP00000505447.1:p.Asp181His
ENST00000680844.1:c.*325G>C	ENSP00000506541.1:n.*325G>C
ENST00000680948.1:c.*408G>C	ENSP00000505441.1:n.*408G>C
ENST00000680964.1:c.541G>C	ENSP00000505961.1:p.Asp181His
ENST00000681037.1:c.541G>C	ENSP00000506025.1:p.Asp181His
ENST00000681063.1:c.541G>C	ENSP00000506616.1:p.Asp181His
ENST00000681209.1:c.*305G>C	ENSP00000505877.1:n.*305G>C
ENST00000681278.1:n.898G>C
ENST00000681289.1:n.898G>C
ENST00000681361.1:c.*208G>C	ENSP00000506679.1:n.*208G>C
ENST00000681430.1:c.541G>C	ENSP00000506301.1:p.Asp181His
ENST00000681446.1:c.*123G>C	ENSP00000506244.1:n.*123G>C
ENST00000681450.1:c.*212G>C	ENSP00000505660.1:n.*212G>C
ENST00000681548.1:c.*127G>C	ENSP00000505275.1:n.*127G>C
ENST00000681616.1:c.*309G>C	ENSP00000505111.1:n.*309G>C
ENST00000681621.1:c.*125G>C	ENSP00000505770.1:n.*125G>C
ENST00000681680.1:n.2665G>C
ENST00000681720.1:c.*55-5754G>C	ENSP00000505438.1:n.*55-5754G>C
ENST00000681730.1:n.763G>C
ENST00000681790.1:c.283G>C	ENSP00000505130.1:p.Asp95His
ENST00000681837.1:n.1157G>C
ENST00000681913.1:n.2665G>C
ENST00000681916.1:c.*309G>C	ENSP00000506477.1:n.*309G>C
ENST00000681930.1:n.2665G>C
ENST00000370834.9:c.640G>C	ENSP00000359871.5:p.Asp214His
ENST00000370841.8:c.541G>C	ENSP00000359878.4:p.Asp181His
ENST00000420607.6:c.553G>C	ENSP00000409612.2:p.Asp185His
ENST00000525808.5:c.*127G>C	ENSP00000434823.1:n.*127G>C
ENST00000526129.5:c.*325G>C	ENSP00000434092.1:n.*325G>C
ENST00000526196.5:c.*309G>C	ENSP00000431953.1:n.*309G>C
ENST00000526930.1:n.314G>C
ENST00000529059.5:n.450G>C
ENST00000530953.6:c.*38G>C	ENSP00000431372.1:n.*38G>C
ENST00000532509.5:c.*305G>C	ENSP00000432522.1:n.*305G>C
ENST00000534334.5:c.*125G>C	ENSP00000435584.1:n.*125G>C
ENST00000541113.5:c.433G>C	ENSP00000442324.1:p.Asp145His
NM_000016.5:c.541G>C	NP_000007.1:p.Asp181His
NM_001127328.2:c.553G>C	NP_001120800.1:p.Asp185His
NM_001286042.1:c.433G>C	NP_001272971.1:p.Asp145His
NM_001286043.1:c.640G>C	NP_001272972.1:p.Asp214His
NM_001286044.1:c.-27G>C	NP_001272973.1:n.-27G>C
NM_000016.6:c.541G>C MANE Select	NP_000007.1:p.Asp181His
NM_001127328.3:c.553G>C	NP_001120800.1:p.Asp185His
NM_001286042.2:c.433G>C	NP_001272971.1:p.Asp145His
NM_001286043.2:c.640G>C	NP_001272972.1:p.Asp214His
NM_001286044.2:c.-27G>C	NP_001272973.1:n.-27G>C