Canonical Allele Identifier: CA340816562

Gene: ACADM

Linked Data

• gnomAD v4: 1-75749446-G-C
• MyVariant Identifiers: chr1:g.76215131G>C (hg19) ; chr1:g.75749446G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749446G>C , CM000663.2:g.75749446G>C	GRCh38
NC_000001.10:g.76215131G>C , CM000663.1:g.76215131G>C	GRCh37
NC_000001.9:g.75987719G>C	NCBI36
NG_007045.2:g.30089G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.736G>C MANE Select	ENSP00000359878.5:p.Asp246His
ENST00000473018.3:n.2860G>C
ENST00000532207.6:n.1625G>C
ENST00000541113.6:c.736G>C	ENSP00000442324.2:p.Asp246His
ENST00000679509.1:n.1698G>C
ENST00000679530.1:c.*504G>C	ENSP00000506454.1:n.*504G>C
ENST00000679615.1:n.2751G>C
ENST00000679687.1:c.298G>C	ENSP00000506598.1:p.Asp100His
ENST00000679704.1:c.*502G>C	ENSP00000505117.1:n.*502G>C
ENST00000679709.1:c.*699G>C	ENSP00000506623.1:n.*699G>C
ENST00000679976.1:c.*320G>C	ENSP00000505565.1:n.*320G>C
ENST00000680166.1:n.4025G>C
ENST00000680517.1:c.*124G>C	ENSP00000505803.1:n.*124G>C
ENST00000680582.1:n.1698G>C
ENST00000680613.1:c.*107G>C	ENSP00000506114.1:n.*107G>C
ENST00000680662.1:c.*650G>C	ENSP00000505080.1:n.*650G>C
ENST00000680691.1:c.*399G>C	ENSP00000506487.1:n.*399G>C
ENST00000680694.1:c.*324G>C	ENSP00000505658.1:n.*324G>C
ENST00000680743.1:c.*403G>C	ENSP00000505073.1:n.*403G>C
ENST00000680749.1:c.*21G>C	ENSP00000505122.1:n.*21G>C
ENST00000680798.1:c.*211G>C	ENSP00000505670.1:n.*211G>C
ENST00000680805.1:c.709-1005G>C	ENSP00000505447.1:n.709-1005G>C
ENST00000680844.1:c.*520G>C	ENSP00000506541.1:n.*520G>C
ENST00000680948.1:c.*603G>C	ENSP00000505441.1:n.*603G>C
ENST00000680964.1:c.736G>C	ENSP00000505961.1:p.Asp246His
ENST00000681037.1:c.*2220G>C	ENSP00000506025.1:n.*2220G>C
ENST00000681063.1:c.600-1005G>C	ENSP00000506616.1:n.600-1005G>C
ENST00000681209.1:c.*391G>C	ENSP00000505877.1:n.*391G>C
ENST00000681278.1:n.1093G>C
ENST00000681289.1:n.4731G>C
ENST00000681361.1:c.*403G>C	ENSP00000506679.1:n.*403G>C
ENST00000681430.1:c.736G>C	ENSP00000506301.1:p.Asp246His
ENST00000681446.1:c.*318G>C	ENSP00000506244.1:n.*318G>C
ENST00000681450.1:c.*407G>C	ENSP00000505660.1:n.*407G>C
ENST00000681548.1:c.*322G>C	ENSP00000505275.1:n.*322G>C
ENST00000681616.1:c.*395G>C	ENSP00000505111.1:n.*395G>C
ENST00000681621.1:c.*320G>C	ENSP00000505770.1:n.*320G>C
ENST00000681680.1:n.2831G>C
ENST00000681720.1:c.*191G>C	ENSP00000505438.1:n.*191G>C
ENST00000681730.1:n.958G>C
ENST00000681790.1:c.478G>C	ENSP00000505130.1:p.Asp160His
ENST00000681837.1:n.1352G>C
ENST00000681913.1:n.2860G>C
ENST00000681916.1:c.*504G>C	ENSP00000506477.1:n.*504G>C
ENST00000681930.1:n.2860G>C
ENST00000370834.9:c.835G>C	ENSP00000359871.5:p.Asp279His
ENST00000370841.8:c.736G>C	ENSP00000359878.4:p.Asp246His
ENST00000420607.6:c.748G>C	ENSP00000409612.2:p.Asp250His
ENST00000525808.5:c.*322G>C	ENSP00000434823.1:n.*322G>C
ENST00000526129.5:c.*520G>C	ENSP00000434092.1:n.*520G>C
ENST00000526196.5:c.*504G>C	ENSP00000431953.1:n.*504G>C
ENST00000526930.1:n.509G>C
ENST00000529059.5:n.645G>C
ENST00000530953.6:c.*233G>C	ENSP00000431372.1:n.*233G>C
ENST00000532207.5:n.466G>C
ENST00000532509.5:c.*500G>C	ENSP00000432522.1:n.*500G>C
ENST00000534334.5:c.*320G>C	ENSP00000435584.1:n.*320G>C
ENST00000541113.5:c.628G>C	ENSP00000442324.1:p.Asp210His
NM_000016.5:c.736G>C	NP_000007.1:p.Asp246His
NM_001127328.2:c.748G>C	NP_001120800.1:p.Asp250His
NM_001286042.1:c.628G>C	NP_001272971.1:p.Asp210His
NM_001286043.1:c.835G>C	NP_001272972.1:p.Asp279His
NM_001286044.1:c.169G>C	NP_001272973.1:p.Asp57His
NM_000016.6:c.736G>C MANE Select	NP_000007.1:p.Asp246His
NM_001127328.3:c.748G>C	NP_001120800.1:p.Asp250His
NM_001286042.2:c.628G>C	NP_001272971.1:p.Asp210His
NM_001286043.2:c.835G>C	NP_001272972.1:p.Asp279His
NM_001286044.2:c.169G>C	NP_001272973.1:p.Asp57His