Canonical Allele Identifier: CA913160

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1137080
• ClinVar RCV Id: RCV001472979
• dbSNP Id: rs776993753
• ExAC: 1:76211501 T / C
• gnomAD v2: 1-76211501-T-C
• gnomAD v3: 1-75745816-T-C
• gnomAD v4: 1-75745816-T-C
• MyVariant Identifiers: chr1:g.76211501T>C (hg19) ; chr1:g.75745816T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745816T>C , CM000663.2:g.75745816T>C	GRCh38
NC_000001.10:g.76211501T>C , CM000663.1:g.76211501T>C	GRCh37
NC_000001.9:g.75984089T>C	NCBI36
NG_007045.2:g.26459T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.610T>C MANE Select	ENSP00000359878.5:p.Leu204=
ENST00000473018.3:n.2734T>C
ENST00000532207.6:n.1499T>C
ENST00000541113.6:c.610T>C	ENSP00000442324.2:p.Leu204=
ENST00000679509.1:n.1572T>C
ENST00000679530.1:c.*378T>C	ENSP00000506454.1:n.*378T>C
ENST00000679615.1:n.2724-3603T>C
ENST00000679687.1:c.172T>C	ENSP00000506598.1:p.Leu58=
ENST00000679704.1:c.*376T>C	ENSP00000505117.1:n.*376T>C
ENST00000679709.1:c.*573T>C	ENSP00000506623.1:n.*573T>C
ENST00000679976.1:c.*194T>C	ENSP00000505565.1:n.*194T>C
ENST00000680166.1:n.3899T>C
ENST00000680517.1:c.*97-3603T>C	ENSP00000505803.1:n.*97-3603T>C
ENST00000680582.1:n.1572T>C
ENST00000680613.1:c.600-19T>C	ENSP00000506114.1:n.600-19T>C
ENST00000680662.1:c.*524T>C	ENSP00000505080.1:n.*524T>C
ENST00000680691.1:c.*273T>C	ENSP00000506487.1:n.*273T>C
ENST00000680694.1:c.*198T>C	ENSP00000505658.1:n.*198T>C
ENST00000680743.1:c.*277T>C	ENSP00000505073.1:n.*277T>C
ENST00000680749.1:c.600-3603T>C	ENSP00000505122.1:n.600-3603T>C
ENST00000680798.1:c.*184-3603T>C	ENSP00000505670.1:n.*184-3603T>C
ENST00000680805.1:c.610T>C	ENSP00000505447.1:p.Leu204=
ENST00000680844.1:c.*394T>C	ENSP00000506541.1:n.*394T>C
ENST00000680948.1:c.*477T>C	ENSP00000505441.1:n.*477T>C
ENST00000680964.1:c.610T>C	ENSP00000505961.1:p.Leu204=
ENST00000681037.1:c.*2113-19T>C	ENSP00000506025.1:n.*2113-19T>C
ENST00000681063.1:c.600-4635T>C	ENSP00000506616.1:n.600-4635T>C
ENST00000681209.1:c.*364-3603T>C	ENSP00000505877.1:n.*364-3603T>C
ENST00000681278.1:n.967T>C
ENST00000681289.1:n.4605T>C
ENST00000681361.1:c.*277T>C	ENSP00000506679.1:n.*277T>C
ENST00000681430.1:c.610T>C	ENSP00000506301.1:p.Leu204=
ENST00000681446.1:c.*192T>C	ENSP00000506244.1:n.*192T>C
ENST00000681450.1:c.*281T>C	ENSP00000505660.1:n.*281T>C
ENST00000681548.1:c.*196T>C	ENSP00000505275.1:n.*196T>C
ENST00000681616.1:c.*368-3603T>C	ENSP00000505111.1:n.*368-3603T>C
ENST00000681621.1:c.*194T>C	ENSP00000505770.1:n.*194T>C
ENST00000681680.1:n.2724-19T>C
ENST00000681720.1:c.*65T>C	ENSP00000505438.1:n.*65T>C
ENST00000681730.1:n.832T>C
ENST00000681790.1:c.352T>C	ENSP00000505130.1:p.Leu118=
ENST00000681837.1:n.1226T>C
ENST00000681913.1:n.2734T>C
ENST00000681916.1:c.*378T>C	ENSP00000506477.1:n.*378T>C
ENST00000681930.1:n.2734T>C
ENST00000370834.9:c.709T>C	ENSP00000359871.5:p.Leu237=
ENST00000370841.8:c.610T>C	ENSP00000359878.4:p.Leu204=
ENST00000420607.6:c.622T>C	ENSP00000409612.2:p.Leu208=
ENST00000525808.5:c.*196T>C	ENSP00000434823.1:n.*196T>C
ENST00000526129.5:c.*394T>C	ENSP00000434092.1:n.*394T>C
ENST00000526196.5:c.*378T>C	ENSP00000431953.1:n.*378T>C
ENST00000526930.1:n.383T>C
ENST00000529059.5:n.519T>C
ENST00000530953.6:c.*107T>C	ENSP00000431372.1:n.*107T>C
ENST00000532207.5:n.340T>C
ENST00000532509.5:c.*374T>C	ENSP00000432522.1:n.*374T>C
ENST00000534334.5:c.*194T>C	ENSP00000435584.1:n.*194T>C
ENST00000541113.5:c.502T>C	ENSP00000442324.1:p.Leu168=
NM_000016.5:c.610T>C	NP_000007.1:p.Leu204=
NM_001127328.2:c.622T>C	NP_001120800.1:p.Leu208=
NM_001286042.1:c.502T>C	NP_001272971.1:p.Leu168=
NM_001286043.1:c.709T>C	NP_001272972.1:p.Leu237=
NM_001286044.1:c.43T>C	NP_001272973.1:p.Leu15=
NM_000016.6:c.610T>C MANE Select	NP_000007.1:p.Leu204=
NM_001127328.3:c.622T>C	NP_001120800.1:p.Leu208=
NM_001286042.2:c.502T>C	NP_001272971.1:p.Leu168=
NM_001286043.2:c.709T>C	NP_001272972.1:p.Leu237=
NM_001286044.2:c.43T>C	NP_001272973.1:p.Leu15=