Canonical Allele Identifier: CA340815822

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1455130
• ClinVar RCV Id: RCV001962948
• dbSNP Id: rs1324329442
• gnomAD v4: 1-75745819-G-C
• MyVariant Identifiers: chr1:g.76211504G>C (hg19) ; chr1:g.75745819G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745819G>C , CM000663.2:g.75745819G>C	GRCh38
NC_000001.10:g.76211504G>C , CM000663.1:g.76211504G>C	GRCh37
NC_000001.9:g.75984092G>C	NCBI36
NG_007045.2:g.26462G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.613G>C MANE Select	ENSP00000359878.5:p.Ala205Pro
ENST00000473018.3:n.2737G>C
ENST00000532207.6:n.1502G>C
ENST00000541113.6:c.613G>C	ENSP00000442324.2:p.Ala205Pro
ENST00000679509.1:n.1575G>C
ENST00000679530.1:c.*381G>C	ENSP00000506454.1:n.*381G>C
ENST00000679615.1:n.2724-3600G>C
ENST00000679687.1:c.175G>C	ENSP00000506598.1:p.Ala59Pro
ENST00000679704.1:c.*379G>C	ENSP00000505117.1:n.*379G>C
ENST00000679709.1:c.*576G>C	ENSP00000506623.1:n.*576G>C
ENST00000679976.1:c.*197G>C	ENSP00000505565.1:n.*197G>C
ENST00000680166.1:n.3902G>C
ENST00000680517.1:c.*97-3600G>C	ENSP00000505803.1:n.*97-3600G>C
ENST00000680582.1:n.1575G>C
ENST00000680613.1:c.600-16G>C	ENSP00000506114.1:n.600-16G>C
ENST00000680662.1:c.*527G>C	ENSP00000505080.1:n.*527G>C
ENST00000680691.1:c.*276G>C	ENSP00000506487.1:n.*276G>C
ENST00000680694.1:c.*201G>C	ENSP00000505658.1:n.*201G>C
ENST00000680743.1:c.*280G>C	ENSP00000505073.1:n.*280G>C
ENST00000680749.1:c.600-3600G>C	ENSP00000505122.1:n.600-3600G>C
ENST00000680798.1:c.*184-3600G>C	ENSP00000505670.1:n.*184-3600G>C
ENST00000680805.1:c.613G>C	ENSP00000505447.1:p.Ala205Pro
ENST00000680844.1:c.*397G>C	ENSP00000506541.1:n.*397G>C
ENST00000680948.1:c.*480G>C	ENSP00000505441.1:n.*480G>C
ENST00000680964.1:c.613G>C	ENSP00000505961.1:p.Ala205Pro
ENST00000681037.1:c.*2113-16G>C	ENSP00000506025.1:n.*2113-16G>C
ENST00000681063.1:c.600-4632G>C	ENSP00000506616.1:n.600-4632G>C
ENST00000681209.1:c.*364-3600G>C	ENSP00000505877.1:n.*364-3600G>C
ENST00000681278.1:n.970G>C
ENST00000681289.1:n.4608G>C
ENST00000681361.1:c.*280G>C	ENSP00000506679.1:n.*280G>C
ENST00000681430.1:c.613G>C	ENSP00000506301.1:p.Ala205Pro
ENST00000681446.1:c.*195G>C	ENSP00000506244.1:n.*195G>C
ENST00000681450.1:c.*284G>C	ENSP00000505660.1:n.*284G>C
ENST00000681548.1:c.*199G>C	ENSP00000505275.1:n.*199G>C
ENST00000681616.1:c.*368-3600G>C	ENSP00000505111.1:n.*368-3600G>C
ENST00000681621.1:c.*197G>C	ENSP00000505770.1:n.*197G>C
ENST00000681680.1:n.2724-16G>C
ENST00000681720.1:c.*68G>C	ENSP00000505438.1:n.*68G>C
ENST00000681730.1:n.835G>C
ENST00000681790.1:c.355G>C	ENSP00000505130.1:p.Ala119Pro
ENST00000681837.1:n.1229G>C
ENST00000681913.1:n.2737G>C
ENST00000681916.1:c.*381G>C	ENSP00000506477.1:n.*381G>C
ENST00000681930.1:n.2737G>C
ENST00000370834.9:c.712G>C	ENSP00000359871.5:p.Ala238Pro
ENST00000370841.8:c.613G>C	ENSP00000359878.4:p.Ala205Pro
ENST00000420607.6:c.625G>C	ENSP00000409612.2:p.Ala209Pro
ENST00000525808.5:c.*199G>C	ENSP00000434823.1:n.*199G>C
ENST00000526129.5:c.*397G>C	ENSP00000434092.1:n.*397G>C
ENST00000526196.5:c.*381G>C	ENSP00000431953.1:n.*381G>C
ENST00000526930.1:n.386G>C
ENST00000529059.5:n.522G>C
ENST00000530953.6:c.*110G>C	ENSP00000431372.1:n.*110G>C
ENST00000532207.5:n.343G>C
ENST00000532509.5:c.*377G>C	ENSP00000432522.1:n.*377G>C
ENST00000534334.5:c.*197G>C	ENSP00000435584.1:n.*197G>C
ENST00000541113.5:c.505G>C	ENSP00000442324.1:p.Ala169Pro
NM_000016.5:c.613G>C	NP_000007.1:p.Ala205Pro
NM_001127328.2:c.625G>C	NP_001120800.1:p.Ala209Pro
NM_001286042.1:c.505G>C	NP_001272971.1:p.Ala169Pro
NM_001286043.1:c.712G>C	NP_001272972.1:p.Ala238Pro
NM_001286044.1:c.46G>C	NP_001272973.1:p.Ala16Pro
NM_000016.6:c.613G>C MANE Select	NP_000007.1:p.Ala205Pro
NM_001127328.3:c.625G>C	NP_001120800.1:p.Ala209Pro
NM_001286042.2:c.505G>C	NP_001272971.1:p.Ala169Pro
NM_001286043.2:c.712G>C	NP_001272972.1:p.Ala238Pro
NM_001286044.2:c.46G>C	NP_001272973.1:p.Ala16Pro