Canonical Allele Identifier: CA340816710

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1997897
• ClinVar RCV Id: RCV002791998
• MyVariant Identifiers: chr1:g.76215194G>T (hg19) ; chr1:g.75749509G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749509G>T , CM000663.2:g.75749509G>T	GRCh38
NC_000001.10:g.76215194G>T , CM000663.1:g.76215194G>T	GRCh37
NC_000001.9:g.75987782G>T	NCBI36
NG_007045.2:g.30152G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.799G>T MANE Select	ENSP00000359878.5:p.Gly267Ter
ENST00000473018.3:n.2923G>T
ENST00000532207.6:n.1688G>T
ENST00000541113.6:c.799G>T	ENSP00000442324.2:p.Gly267Ter
ENST00000679509.1:n.1761G>T
ENST00000679530.1:c.*567G>T	ENSP00000506454.1:n.*567G>T
ENST00000679615.1:n.2814G>T
ENST00000679687.1:c.361G>T	ENSP00000506598.1:p.Gly121Ter
ENST00000679704.1:c.*565G>T	ENSP00000505117.1:n.*565G>T
ENST00000679709.1:c.*762G>T	ENSP00000506623.1:n.*762G>T
ENST00000679976.1:c.*383G>T	ENSP00000505565.1:n.*383G>T
ENST00000680166.1:n.4088G>T
ENST00000680517.1:c.*187G>T	ENSP00000505803.1:n.*187G>T
ENST00000680582.1:n.1761G>T
ENST00000680613.1:c.*170G>T	ENSP00000506114.1:n.*170G>T
ENST00000680662.1:c.*713G>T	ENSP00000505080.1:n.*713G>T
ENST00000680691.1:c.*462G>T	ENSP00000506487.1:n.*462G>T
ENST00000680694.1:c.*387G>T	ENSP00000505658.1:n.*387G>T
ENST00000680743.1:c.*466G>T	ENSP00000505073.1:n.*466G>T
ENST00000680749.1:c.*84G>T	ENSP00000505122.1:n.*84G>T
ENST00000680798.1:c.*274G>T	ENSP00000505670.1:n.*274G>T
ENST00000680805.1:c.709-942G>T	ENSP00000505447.1:n.709-942G>T
ENST00000680844.1:c.*583G>T	ENSP00000506541.1:n.*583G>T
ENST00000680948.1:c.*666G>T	ENSP00000505441.1:n.*666G>T
ENST00000680964.1:c.799G>T	ENSP00000505961.1:p.Gly267Ter
ENST00000681037.1:c.*2283G>T	ENSP00000506025.1:n.*2283G>T
ENST00000681063.1:c.600-942G>T	ENSP00000506616.1:n.600-942G>T
ENST00000681209.1:c.*454G>T	ENSP00000505877.1:n.*454G>T
ENST00000681278.1:n.1156G>T
ENST00000681289.1:n.4794G>T
ENST00000681361.1:c.*466G>T	ENSP00000506679.1:n.*466G>T
ENST00000681430.1:c.799G>T	ENSP00000506301.1:p.Gly267Ter
ENST00000681446.1:c.*381G>T	ENSP00000506244.1:n.*381G>T
ENST00000681450.1:c.*470G>T	ENSP00000505660.1:n.*470G>T
ENST00000681548.1:c.*385G>T	ENSP00000505275.1:n.*385G>T
ENST00000681616.1:c.*458G>T	ENSP00000505111.1:n.*458G>T
ENST00000681621.1:c.*383G>T	ENSP00000505770.1:n.*383G>T
ENST00000681680.1:n.2894G>T
ENST00000681720.1:c.*254G>T	ENSP00000505438.1:n.*254G>T
ENST00000681730.1:n.1021G>T
ENST00000681790.1:c.541G>T	ENSP00000505130.1:p.Gly181Ter
ENST00000681837.1:n.1415G>T
ENST00000681913.1:n.2923G>T
ENST00000681916.1:c.*567G>T	ENSP00000506477.1:n.*567G>T
ENST00000681930.1:n.2923G>T
ENST00000370834.9:c.898G>T	ENSP00000359871.5:p.Gly300Ter
ENST00000370841.8:c.799G>T	ENSP00000359878.4:p.Gly267Ter
ENST00000420607.6:c.811G>T	ENSP00000409612.2:p.Gly271Ter
ENST00000525808.5:c.*385G>T	ENSP00000434823.1:n.*385G>T
ENST00000526129.5:c.*583G>T	ENSP00000434092.1:n.*583G>T
ENST00000526196.5:c.*567G>T	ENSP00000431953.1:n.*567G>T
ENST00000526930.1:n.572G>T
ENST00000528016.1:c.13G>T	ENSP00000434284.1:p.Gly5Ter
ENST00000529059.5:n.708G>T
ENST00000530953.6:c.*296G>T	ENSP00000431372.1:n.*296G>T
ENST00000532207.5:n.529G>T
ENST00000532509.5:c.*563G>T	ENSP00000432522.1:n.*563G>T
ENST00000534334.5:c.*383G>T	ENSP00000435584.1:n.*383G>T
ENST00000541113.5:c.691G>T	ENSP00000442324.1:p.Gly231Ter
NM_000016.5:c.799G>T	NP_000007.1:p.Gly267Ter
NM_001127328.2:c.811G>T	NP_001120800.1:p.Gly271Ter
NM_001286042.1:c.691G>T	NP_001272971.1:p.Gly231Ter
NM_001286043.1:c.898G>T	NP_001272972.1:p.Gly300Ter
NM_001286044.1:c.232G>T	NP_001272973.1:p.Gly78Ter
NM_000016.6:c.799G>T MANE Select	NP_000007.1:p.Gly267Ter
NM_001127328.3:c.811G>T	NP_001120800.1:p.Gly271Ter
NM_001286042.2:c.691G>T	NP_001272971.1:p.Gly231Ter
NM_001286043.2:c.898G>T	NP_001272972.1:p.Gly300Ter
NM_001286044.2:c.232G>T	NP_001272973.1:p.Gly78Ter