Canonical Allele Identifier: CA16603787

Gene: ACADM

Linked Data

• ClinVar Variation Id: 377420
• ClinVar RCV Id: RCV001828399
• dbSNP Id: rs1057520215
• gnomAD v4: 1-75750467-T-C
• MyVariant Identifiers: chr1:g.76216152T>C (hg19) ; chr1:g.75750467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750467T>C , CM000663.2:g.75750467T>C	GRCh38
NC_000001.10:g.76216152T>C , CM000663.1:g.76216152T>C	GRCh37
NC_000001.9:g.75988740T>C	NCBI36
NG_007045.2:g.31110T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.866T>C MANE Select	ENSP00000359878.5:p.Val289Ala
ENST00000473018.3:n.2990T>C
ENST00000532207.6:n.1755T>C
ENST00000541113.6:c.849+908T>C	ENSP00000442324.2:n.849+908T>C
ENST00000679509.1:n.1828T>C
ENST00000679530.1:c.*634T>C	ENSP00000506454.1:n.*634T>C
ENST00000679615.1:n.2881T>C
ENST00000679687.1:c.428T>C	ENSP00000506598.1:p.Val143Ala
ENST00000679704.1:c.*632T>C	ENSP00000505117.1:n.*632T>C
ENST00000679709.1:c.*829T>C	ENSP00000506623.1:n.*829T>C
ENST00000679976.1:c.*450T>C	ENSP00000505565.1:n.*450T>C
ENST00000680166.1:n.4155T>C
ENST00000680315.1:n.749T>C
ENST00000680517.1:c.*254T>C	ENSP00000505803.1:n.*254T>C
ENST00000680582.1:n.1828T>C
ENST00000680613.1:c.*237T>C	ENSP00000506114.1:n.*237T>C
ENST00000680662.1:c.*780T>C	ENSP00000505080.1:n.*780T>C
ENST00000680691.1:c.*529T>C	ENSP00000506487.1:n.*529T>C
ENST00000680694.1:c.*454T>C	ENSP00000505658.1:n.*454T>C
ENST00000680743.1:c.*533T>C	ENSP00000505073.1:n.*533T>C
ENST00000680749.1:c.*151T>C	ENSP00000505122.1:n.*151T>C
ENST00000680798.1:c.*341T>C	ENSP00000505670.1:n.*341T>C
ENST00000680805.1:c.725T>C	ENSP00000505447.1:p.Val242Ala
ENST00000680844.1:c.*650T>C	ENSP00000506541.1:n.*650T>C
ENST00000680948.1:c.*733T>C	ENSP00000505441.1:n.*733T>C
ENST00000680964.1:c.866T>C	ENSP00000505961.1:p.Val289Ala
ENST00000681037.1:c.*2350T>C	ENSP00000506025.1:n.*2350T>C
ENST00000681063.1:c.*13T>C	ENSP00000506616.1:n.*13T>C
ENST00000681209.1:c.*521T>C	ENSP00000505877.1:n.*521T>C
ENST00000681278.1:n.1223T>C
ENST00000681289.1:n.4861T>C
ENST00000681361.1:c.*533T>C	ENSP00000506679.1:n.*533T>C
ENST00000681430.1:c.866T>C	ENSP00000506301.1:p.Val289Ala
ENST00000681446.1:c.*448T>C	ENSP00000506244.1:n.*448T>C
ENST00000681450.1:c.*537T>C	ENSP00000505660.1:n.*537T>C
ENST00000681548.1:c.*452T>C	ENSP00000505275.1:n.*452T>C
ENST00000681616.1:c.*525T>C	ENSP00000505111.1:n.*525T>C
ENST00000681621.1:c.*450T>C	ENSP00000505770.1:n.*450T>C
ENST00000681680.1:n.2961T>C
ENST00000681720.1:c.*321T>C	ENSP00000505438.1:n.*321T>C
ENST00000681730.1:n.1088T>C
ENST00000681790.1:c.608T>C	ENSP00000505130.1:p.Val203Ala
ENST00000681837.1:n.1482T>C
ENST00000681913.1:n.2990T>C
ENST00000681916.1:c.*634T>C	ENSP00000506477.1:n.*634T>C
ENST00000681930.1:n.2990T>C
ENST00000370834.9:c.965T>C	ENSP00000359871.5:p.Val322Ala
ENST00000370841.8:c.866T>C	ENSP00000359878.4:p.Val289Ala
ENST00000420607.6:c.878T>C	ENSP00000409612.2:p.Val293Ala
ENST00000481374.1:n.17T>C
ENST00000525808.5:c.*452T>C	ENSP00000434823.1:n.*452T>C
ENST00000526129.5:c.*650T>C	ENSP00000434092.1:n.*650T>C
ENST00000526196.5:c.*634T>C	ENSP00000431953.1:n.*634T>C
ENST00000528016.1:c.80T>C	ENSP00000434284.1:p.Val27Ala
ENST00000529059.5:n.775T>C
ENST00000532207.5:n.596T>C
ENST00000534334.5:c.*450T>C	ENSP00000435584.1:n.*450T>C
ENST00000541113.5:c.758T>C	ENSP00000442324.1:p.Val253Ala
NM_000016.5:c.866T>C	NP_000007.1:p.Val289Ala
NM_001127328.2:c.878T>C	NP_001120800.1:p.Val293Ala
NM_001286042.1:c.758T>C	NP_001272971.1:p.Val253Ala
NM_001286043.1:c.965T>C	NP_001272972.1:p.Val322Ala
NM_001286044.1:c.299T>C	NP_001272973.1:p.Val100Ala
NM_000016.6:c.866T>C MANE Select	NP_000007.1:p.Val289Ala
NM_001127328.3:c.878T>C	NP_001120800.1:p.Val293Ala
NM_001286042.2:c.758T>C	NP_001272971.1:p.Val253Ala
NM_001286043.2:c.965T>C	NP_001272972.1:p.Val322Ala
NM_001286044.2:c.299T>C	NP_001272973.1:p.Val100Ala