Canonical Allele Identifier: CA913119

Gene: ACADM

Linked Data

• dbSNP Id: rs761132289
• ExAC: 1:76205618 T / C
• gnomAD v2: 1-76205618-T-C
• gnomAD v4: 1-75739933-T-C
• MyVariant Identifiers: chr1:g.76205618T>C (hg19) ; chr1:g.75739933T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75739933T>C , CM000663.2:g.75739933T>C	GRCh38
NC_000001.10:g.76205618T>C , CM000663.1:g.76205618T>C	GRCh37
NC_000001.9:g.75978206T>C	NCBI36
NG_007045.2:g.20576T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.469-47T>C MANE Select	ENSP00000359878.5:n.469-47T>C
ENST00000473018.3:n.2593-47T>C
ENST00000541113.6:c.469-47T>C	ENSP00000442324.2:n.469-47T>C
ENST00000679509.1:n.1431-47T>C
ENST00000679530.1:c.*237-47T>C	ENSP00000506454.1:n.*237-47T>C
ENST00000679615.1:n.2593-47T>C
ENST00000679687.1:c.31-47T>C	ENSP00000506598.1:n.31-47T>C
ENST00000679704.1:c.*235-47T>C	ENSP00000505117.1:n.*235-47T>C
ENST00000679709.1:c.*432-47T>C	ENSP00000506623.1:n.*432-47T>C
ENST00000679804.1:n.208-47T>C
ENST00000679976.1:c.*53-47T>C	ENSP00000505565.1:n.*53-47T>C
ENST00000680166.1:n.3758-47T>C
ENST00000680517.1:c.287-47T>C	ENSP00000505803.1:n.287-47T>C
ENST00000680582.1:n.1431-47T>C
ENST00000680613.1:c.469-47T>C	ENSP00000506114.1:n.469-47T>C
ENST00000680662.1:c.*383-47T>C	ENSP00000505080.1:n.*383-47T>C
ENST00000680691.1:c.*132-47T>C	ENSP00000506487.1:n.*132-47T>C
ENST00000680694.1:c.*57-47T>C	ENSP00000505658.1:n.*57-47T>C
ENST00000680743.1:c.*136-47T>C	ENSP00000505073.1:n.*136-47T>C
ENST00000680749.1:c.469-47T>C	ENSP00000505122.1:n.469-47T>C
ENST00000680798.1:c.*53-47T>C	ENSP00000505670.1:n.*53-47T>C
ENST00000680805.1:c.469-47T>C	ENSP00000505447.1:n.469-47T>C
ENST00000680844.1:c.*253-47T>C	ENSP00000506541.1:n.*253-47T>C
ENST00000680948.1:c.*336-47T>C	ENSP00000505441.1:n.*336-47T>C
ENST00000680964.1:c.469-47T>C	ENSP00000505961.1:n.469-47T>C
ENST00000681037.1:c.469-47T>C	ENSP00000506025.1:n.469-47T>C
ENST00000681063.1:c.469-47T>C	ENSP00000506616.1:n.469-47T>C
ENST00000681209.1:c.*233-47T>C	ENSP00000505877.1:n.*233-47T>C
ENST00000681278.1:n.826-47T>C
ENST00000681289.1:n.826-47T>C
ENST00000681361.1:c.*136-47T>C	ENSP00000506679.1:n.*136-47T>C
ENST00000681430.1:c.469-47T>C	ENSP00000506301.1:n.469-47T>C
ENST00000681446.1:c.*51-47T>C	ENSP00000506244.1:n.*51-47T>C
ENST00000681450.1:c.*140-47T>C	ENSP00000505660.1:n.*140-47T>C
ENST00000681548.1:c.*55-47T>C	ENSP00000505275.1:n.*55-47T>C
ENST00000681616.1:c.*237-47T>C	ENSP00000505111.1:n.*237-47T>C
ENST00000681621.1:c.*53-47T>C	ENSP00000505770.1:n.*53-47T>C
ENST00000681680.1:n.2593-47T>C
ENST00000681720.1:c.*55-5873T>C	ENSP00000505438.1:n.*55-5873T>C
ENST00000681730.1:n.691-47T>C
ENST00000681790.1:c.211-47T>C	ENSP00000505130.1:n.211-47T>C
ENST00000681837.1:n.1085-47T>C
ENST00000681913.1:n.2593-47T>C
ENST00000681916.1:c.*237-47T>C	ENSP00000506477.1:n.*237-47T>C
ENST00000681930.1:n.2593-47T>C
ENST00000370834.9:c.568-47T>C	ENSP00000359871.5:n.568-47T>C
ENST00000370841.8:c.469-47T>C	ENSP00000359878.4:n.469-47T>C
ENST00000420607.6:c.481-47T>C	ENSP00000409612.2:n.481-47T>C
ENST00000525808.5:c.*55-47T>C	ENSP00000434823.1:n.*55-47T>C
ENST00000526129.5:c.*253-47T>C	ENSP00000434092.1:n.*253-47T>C
ENST00000526196.5:c.*237-47T>C	ENSP00000431953.1:n.*237-47T>C
ENST00000526930.1:n.242-47T>C
ENST00000529059.5:n.378-47T>C
ENST00000530953.6:c.119-47T>C	ENSP00000431372.1:n.119-47T>C
ENST00000532509.5:c.*233-47T>C	ENSP00000432522.1:n.*233-47T>C
ENST00000534334.5:c.*53-47T>C	ENSP00000435584.1:n.*53-47T>C
ENST00000541113.5:c.361-47T>C	ENSP00000442324.1:n.361-47T>C
NM_000016.5:c.469-47T>C	NP_000007.1:n.469-47T>C
NM_001127328.2:c.481-47T>C	NP_001120800.1:n.481-47T>C
NM_001286042.1:c.361-47T>C	NP_001272971.1:n.361-47T>C
NM_001286043.1:c.568-47T>C	NP_001272972.1:n.568-47T>C
NM_001286044.1:c.-99-47T>C	NP_001272973.1:n.-99-47T>C
NM_000016.6:c.469-47T>C MANE Select	NP_000007.1:n.469-47T>C
NM_001127328.3:c.481-47T>C	NP_001120800.1:n.481-47T>C
NM_001286042.2:c.361-47T>C	NP_001272971.1:n.361-47T>C
NM_001286043.2:c.568-47T>C	NP_001272972.1:n.568-47T>C
NM_001286044.2:c.-99-47T>C	NP_001272973.1:n.-99-47T>C