Canonical Allele Identifier: CA16040778

Gene: ACADM

Linked Data

• ClinVar Variation Id: 371073
• ClinVar RCV Id: RCV000411111
• dbSNP Id: rs1057516983
• COSMIC: COSM6127641 ; COSM6127642
• MyVariant Identifiers: chr1:g.76199314G>T (hg19) ; chr1:g.75733629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75733629G>T , CM000663.2:g.75733629G>T	GRCh38
NC_000001.10:g.76199314G>T , CM000663.1:g.76199314G>T	GRCh37
NC_000001.9:g.75971902G>T	NCBI36
NG_007045.2:g.14272G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.387+1G>T MANE Select	ENSP00000359878.5:n.387+1G>T
ENST00000473018.3:n.1350G>T
ENST00000525881.6:n.1349+1G>T
ENST00000541113.6:c.387+1G>T	ENSP00000442324.2:n.387+1G>T
ENST00000679509.1:n.1349+1G>T
ENST00000679530.1:c.*155+1G>T	ENSP00000506454.1:n.*155+1G>T
ENST00000679615.1:n.1350G>T
ENST00000679687.1:c.31-6351G>T	ENSP00000506598.1:n.31-6351G>T
ENST00000679704.1:c.*153+480G>T	ENSP00000505117.1:n.*153+480G>T
ENST00000679709.1:c.*350+1G>T	ENSP00000506623.1:n.*350+1G>T
ENST00000679804.1:n.207+707G>T
ENST00000679976.1:c.286+707G>T	ENSP00000505565.1:n.286+707G>T
ENST00000680166.1:n.2515G>T
ENST00000680517.1:c.286+707G>T	ENSP00000505803.1:n.286+707G>T
ENST00000680582.1:n.1349+1G>T
ENST00000680613.1:c.387+1G>T	ENSP00000506114.1:n.387+1G>T
ENST00000680662.1:c.*301+1G>T	ENSP00000505080.1:n.*301+1G>T
ENST00000680691.1:c.*50+707G>T	ENSP00000506487.1:n.*50+707G>T
ENST00000680694.1:c.286+707G>T	ENSP00000505658.1:n.286+707G>T
ENST00000680743.1:c.*54+707G>T	ENSP00000505073.1:n.*54+707G>T
ENST00000680749.1:c.387+1G>T	ENSP00000505122.1:n.387+1G>T
ENST00000680798.1:c.286+707G>T	ENSP00000505670.1:n.286+707G>T
ENST00000680805.1:c.387+1G>T	ENSP00000505447.1:n.387+1G>T
ENST00000680844.1:c.*171+1G>T	ENSP00000506541.1:n.*171+1G>T
ENST00000680948.1:c.*254+1G>T	ENSP00000505441.1:n.*254+1G>T
ENST00000680964.1:c.387+1G>T	ENSP00000505961.1:n.387+1G>T
ENST00000681037.1:c.387+1G>T	ENSP00000506025.1:n.387+1G>T
ENST00000681063.1:c.387+1G>T	ENSP00000506616.1:n.387+1G>T
ENST00000681209.1:c.*151+1G>T	ENSP00000505877.1:n.*151+1G>T
ENST00000681278.1:n.744+1G>T
ENST00000681289.1:n.744+1G>T
ENST00000681361.1:c.*54+707G>T	ENSP00000506679.1:n.*54+707G>T
ENST00000681430.1:c.387+1G>T	ENSP00000506301.1:n.387+1G>T
ENST00000681446.1:c.286+707G>T	ENSP00000506244.1:n.286+707G>T
ENST00000681450.1:c.*54+707G>T	ENSP00000505660.1:n.*54+707G>T
ENST00000681548.1:c.*54+707G>T	ENSP00000505275.1:n.*54+707G>T
ENST00000681616.1:c.*155+1G>T	ENSP00000505111.1:n.*155+1G>T
ENST00000681621.1:c.286+707G>T	ENSP00000505770.1:n.286+707G>T
ENST00000681680.1:n.1350G>T
ENST00000681720.1:c.*54+707G>T	ENSP00000505438.1:n.*54+707G>T
ENST00000681730.1:n.609+1G>T
ENST00000681790.1:c.129+1G>T	ENSP00000505130.1:n.129+1G>T
ENST00000681837.1:n.1003+1G>T
ENST00000681913.1:n.1350G>T
ENST00000681916.1:c.*155+1G>T	ENSP00000506477.1:n.*155+1G>T
ENST00000681930.1:n.1350G>T
ENST00000370834.9:c.486+1G>T	ENSP00000359871.5:n.486+1G>T
ENST00000370841.8:c.387+1G>T	ENSP00000359878.4:n.387+1G>T
ENST00000420607.6:c.399+1G>T	ENSP00000409612.2:n.399+1G>T
ENST00000525808.5:c.*54+707G>T	ENSP00000434823.1:n.*54+707G>T
ENST00000526129.5:c.*171+1G>T	ENSP00000434092.1:n.*171+1G>T
ENST00000526196.5:c.*155+1G>T	ENSP00000431953.1:n.*155+1G>T
ENST00000529059.5:n.296+707G>T
ENST00000530953.6:c.118+5141G>T	ENSP00000431372.1:n.118+5141G>T
ENST00000532509.5:c.*151+1G>T	ENSP00000432522.1:n.*151+1G>T
ENST00000534334.5:c.286+707G>T	ENSP00000435584.1:n.286+707G>T
ENST00000541113.5:c.279+1G>T	ENSP00000442324.1:n.279+1G>T
NM_000016.5:c.387+1G>T	NP_000007.1:n.387+1G>T
NM_001127328.2:c.399+1G>T	NP_001120800.1:n.399+1G>T
NM_001286042.1:c.279+1G>T	NP_001272971.1:n.279+1G>T
NM_001286043.1:c.486+1G>T	NP_001272972.1:n.486+1G>T
NM_001286044.1:c.-100+707G>T	NP_001272973.1:n.-100+707G>T
NM_000016.6:c.387+1G>T MANE Select	NP_000007.1:n.387+1G>T
NM_001127328.3:c.399+1G>T	NP_001120800.1:n.399+1G>T
NM_001286042.2:c.279+1G>T	NP_001272971.1:n.279+1G>T
NM_001286043.2:c.486+1G>T	NP_001272972.1:n.486+1G>T
NM_001286044.2:c.-100+707G>T	NP_001272973.1:n.-100+707G>T