Canonical Allele Identifier: CA340816957

Gene: ACADM

Linked Data

• ClinVar Variation Id: 954981
• ClinVar RCV Id: RCV001227536
• dbSNP Id: rs1648137997
• MyVariant Identifiers: chr1:g.76216151G>T (hg19) ; chr1:g.75750466G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750466G>T , CM000663.2:g.75750466G>T	GRCh38
NC_000001.10:g.76216151G>T , CM000663.1:g.76216151G>T	GRCh37
NC_000001.9:g.75988739G>T	NCBI36
NG_007045.2:g.31109G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.865G>T MANE Select	ENSP00000359878.5:p.Val289Phe
ENST00000473018.3:n.2989G>T
ENST00000532207.6:n.1754G>T
ENST00000541113.6:c.849+907G>T	ENSP00000442324.2:n.849+907G>T
ENST00000679509.1:n.1827G>T
ENST00000679530.1:c.*633G>T	ENSP00000506454.1:n.*633G>T
ENST00000679615.1:n.2880G>T
ENST00000679687.1:c.427G>T	ENSP00000506598.1:p.Val143Phe
ENST00000679704.1:c.*631G>T	ENSP00000505117.1:n.*631G>T
ENST00000679709.1:c.*828G>T	ENSP00000506623.1:n.*828G>T
ENST00000679976.1:c.*449G>T	ENSP00000505565.1:n.*449G>T
ENST00000680166.1:n.4154G>T
ENST00000680315.1:n.748G>T
ENST00000680517.1:c.*253G>T	ENSP00000505803.1:n.*253G>T
ENST00000680582.1:n.1827G>T
ENST00000680613.1:c.*236G>T	ENSP00000506114.1:n.*236G>T
ENST00000680662.1:c.*779G>T	ENSP00000505080.1:n.*779G>T
ENST00000680691.1:c.*528G>T	ENSP00000506487.1:n.*528G>T
ENST00000680694.1:c.*453G>T	ENSP00000505658.1:n.*453G>T
ENST00000680743.1:c.*532G>T	ENSP00000505073.1:n.*532G>T
ENST00000680749.1:c.*150G>T	ENSP00000505122.1:n.*150G>T
ENST00000680798.1:c.*340G>T	ENSP00000505670.1:n.*340G>T
ENST00000680805.1:c.724G>T	ENSP00000505447.1:p.Val242Phe
ENST00000680844.1:c.*649G>T	ENSP00000506541.1:n.*649G>T
ENST00000680948.1:c.*732G>T	ENSP00000505441.1:n.*732G>T
ENST00000680964.1:c.865G>T	ENSP00000505961.1:p.Val289Phe
ENST00000681037.1:c.*2349G>T	ENSP00000506025.1:n.*2349G>T
ENST00000681063.1:c.*12G>T	ENSP00000506616.1:n.*12G>T
ENST00000681209.1:c.*520G>T	ENSP00000505877.1:n.*520G>T
ENST00000681278.1:n.1222G>T
ENST00000681289.1:n.4860G>T
ENST00000681361.1:c.*532G>T	ENSP00000506679.1:n.*532G>T
ENST00000681430.1:c.865G>T	ENSP00000506301.1:p.Val289Phe
ENST00000681446.1:c.*447G>T	ENSP00000506244.1:n.*447G>T
ENST00000681450.1:c.*536G>T	ENSP00000505660.1:n.*536G>T
ENST00000681548.1:c.*451G>T	ENSP00000505275.1:n.*451G>T
ENST00000681616.1:c.*524G>T	ENSP00000505111.1:n.*524G>T
ENST00000681621.1:c.*449G>T	ENSP00000505770.1:n.*449G>T
ENST00000681680.1:n.2960G>T
ENST00000681720.1:c.*320G>T	ENSP00000505438.1:n.*320G>T
ENST00000681730.1:n.1087G>T
ENST00000681790.1:c.607G>T	ENSP00000505130.1:p.Val203Phe
ENST00000681837.1:n.1481G>T
ENST00000681913.1:n.2989G>T
ENST00000681916.1:c.*633G>T	ENSP00000506477.1:n.*633G>T
ENST00000681930.1:n.2989G>T
ENST00000370834.9:c.964G>T	ENSP00000359871.5:p.Val322Phe
ENST00000370841.8:c.865G>T	ENSP00000359878.4:p.Val289Phe
ENST00000420607.6:c.877G>T	ENSP00000409612.2:p.Val293Phe
ENST00000481374.1:n.16G>T
ENST00000525808.5:c.*451G>T	ENSP00000434823.1:n.*451G>T
ENST00000526129.5:c.*649G>T	ENSP00000434092.1:n.*649G>T
ENST00000526196.5:c.*633G>T	ENSP00000431953.1:n.*633G>T
ENST00000528016.1:c.79G>T	ENSP00000434284.1:p.Val27Phe
ENST00000529059.5:n.774G>T
ENST00000532207.5:n.595G>T
ENST00000534334.5:c.*449G>T	ENSP00000435584.1:n.*449G>T
ENST00000541113.5:c.757G>T	ENSP00000442324.1:p.Val253Phe
NM_000016.5:c.865G>T	NP_000007.1:p.Val289Phe
NM_001127328.2:c.877G>T	NP_001120800.1:p.Val293Phe
NM_001286042.1:c.757G>T	NP_001272971.1:p.Val253Phe
NM_001286043.1:c.964G>T	NP_001272972.1:p.Val322Phe
NM_001286044.1:c.298G>T	NP_001272973.1:p.Val100Phe
NM_000016.6:c.865G>T MANE Select	NP_000007.1:p.Val289Phe
NM_001127328.3:c.877G>T	NP_001120800.1:p.Val293Phe
NM_001286042.2:c.757G>T	NP_001272971.1:p.Val253Phe
NM_001286043.2:c.964G>T	NP_001272972.1:p.Val322Phe
NM_001286044.2:c.298G>T	NP_001272973.1:p.Val100Phe