Canonical Allele Identifier: CA340816760

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2438804
• ClinVar RCV Id: RCV003139556 ; RCV003396919
• dbSNP Id: rs1648083262
• gnomAD v4: 1-75749523-A-C
• MyVariant Identifiers: chr1:g.76215208A>C (hg19) ; chr1:g.75749523A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749523A>C , CM000663.2:g.75749523A>C	GRCh38
NC_000001.10:g.76215208A>C , CM000663.1:g.76215208A>C	GRCh37
NC_000001.9:g.75987796A>C	NCBI36
NG_007045.2:g.30166A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.813A>C MANE Select	ENSP00000359878.5:p.Lys271Asn
ENST00000473018.3:n.2937A>C
ENST00000532207.6:n.1702A>C
ENST00000541113.6:c.813A>C	ENSP00000442324.2:p.Lys271Asn
ENST00000679509.1:n.1775A>C
ENST00000679530.1:c.*581A>C	ENSP00000506454.1:n.*581A>C
ENST00000679615.1:n.2828A>C
ENST00000679687.1:c.375A>C	ENSP00000506598.1:p.Lys125Asn
ENST00000679704.1:c.*579A>C	ENSP00000505117.1:n.*579A>C
ENST00000679709.1:c.*776A>C	ENSP00000506623.1:n.*776A>C
ENST00000679976.1:c.*397A>C	ENSP00000505565.1:n.*397A>C
ENST00000680166.1:n.4102A>C
ENST00000680517.1:c.*201A>C	ENSP00000505803.1:n.*201A>C
ENST00000680582.1:n.1775A>C
ENST00000680613.1:c.*184A>C	ENSP00000506114.1:n.*184A>C
ENST00000680662.1:c.*727A>C	ENSP00000505080.1:n.*727A>C
ENST00000680691.1:c.*476A>C	ENSP00000506487.1:n.*476A>C
ENST00000680694.1:c.*401A>C	ENSP00000505658.1:n.*401A>C
ENST00000680743.1:c.*480A>C	ENSP00000505073.1:n.*480A>C
ENST00000680749.1:c.*98A>C	ENSP00000505122.1:n.*98A>C
ENST00000680798.1:c.*288A>C	ENSP00000505670.1:n.*288A>C
ENST00000680805.1:c.709-928A>C	ENSP00000505447.1:n.709-928A>C
ENST00000680844.1:c.*597A>C	ENSP00000506541.1:n.*597A>C
ENST00000680948.1:c.*680A>C	ENSP00000505441.1:n.*680A>C
ENST00000680964.1:c.813A>C	ENSP00000505961.1:p.Lys271Asn
ENST00000681037.1:c.*2297A>C	ENSP00000506025.1:n.*2297A>C
ENST00000681063.1:c.600-928A>C	ENSP00000506616.1:n.600-928A>C
ENST00000681209.1:c.*468A>C	ENSP00000505877.1:n.*468A>C
ENST00000681278.1:n.1170A>C
ENST00000681289.1:n.4808A>C
ENST00000681361.1:c.*480A>C	ENSP00000506679.1:n.*480A>C
ENST00000681430.1:c.813A>C	ENSP00000506301.1:p.Lys271Asn
ENST00000681446.1:c.*395A>C	ENSP00000506244.1:n.*395A>C
ENST00000681450.1:c.*484A>C	ENSP00000505660.1:n.*484A>C
ENST00000681548.1:c.*399A>C	ENSP00000505275.1:n.*399A>C
ENST00000681616.1:c.*472A>C	ENSP00000505111.1:n.*472A>C
ENST00000681621.1:c.*397A>C	ENSP00000505770.1:n.*397A>C
ENST00000681680.1:n.2908A>C
ENST00000681720.1:c.*268A>C	ENSP00000505438.1:n.*268A>C
ENST00000681730.1:n.1035A>C
ENST00000681790.1:c.555A>C	ENSP00000505130.1:p.Lys185Asn
ENST00000681837.1:n.1429A>C
ENST00000681913.1:n.2937A>C
ENST00000681916.1:c.*581A>C	ENSP00000506477.1:n.*581A>C
ENST00000681930.1:n.2937A>C
ENST00000370834.9:c.912A>C	ENSP00000359871.5:p.Lys304Asn
ENST00000370841.8:c.813A>C	ENSP00000359878.4:p.Lys271Asn
ENST00000420607.6:c.825A>C	ENSP00000409612.2:p.Lys275Asn
ENST00000525808.5:c.*399A>C	ENSP00000434823.1:n.*399A>C
ENST00000526129.5:c.*597A>C	ENSP00000434092.1:n.*597A>C
ENST00000526196.5:c.*581A>C	ENSP00000431953.1:n.*581A>C
ENST00000528016.1:c.27A>C	ENSP00000434284.1:p.Lys9Asn
ENST00000529059.5:n.722A>C
ENST00000530953.6:c.*310A>C	ENSP00000431372.1:n.*310A>C
ENST00000532207.5:n.543A>C
ENST00000532509.5:c.*577A>C	ENSP00000432522.1:n.*577A>C
ENST00000534334.5:c.*397A>C	ENSP00000435584.1:n.*397A>C
ENST00000541113.5:c.705A>C	ENSP00000442324.1:p.Lys235Asn
NM_000016.5:c.813A>C	NP_000007.1:p.Lys271Asn
NM_001127328.2:c.825A>C	NP_001120800.1:p.Lys275Asn
NM_001286042.1:c.705A>C	NP_001272971.1:p.Lys235Asn
NM_001286043.1:c.912A>C	NP_001272972.1:p.Lys304Asn
NM_001286044.1:c.246A>C	NP_001272973.1:p.Lys82Asn
NM_000016.6:c.813A>C MANE Select	NP_000007.1:p.Lys271Asn
NM_001127328.3:c.825A>C	NP_001120800.1:p.Lys275Asn
NM_001286042.2:c.705A>C	NP_001272971.1:p.Lys235Asn
NM_001286043.2:c.912A>C	NP_001272972.1:p.Lys304Asn
NM_001286044.2:c.246A>C	NP_001272973.1:p.Lys82Asn