Canonical Allele Identifier: CA340816535

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215117G>C (hg19) ; chr1:g.75749432G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749432G>C , CM000663.2:g.75749432G>C	GRCh38
NC_000001.10:g.76215117G>C , CM000663.1:g.76215117G>C	GRCh37
NC_000001.9:g.75987705G>C	NCBI36
NG_007045.2:g.30075G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.722G>C MANE Select	ENSP00000359878.5:p.Gly241Ala
ENST00000473018.3:n.2846G>C
ENST00000532207.6:n.1611G>C
ENST00000541113.6:c.722G>C	ENSP00000442324.2:p.Gly241Ala
ENST00000679509.1:n.1684G>C
ENST00000679530.1:c.*490G>C	ENSP00000506454.1:n.*490G>C
ENST00000679615.1:n.2737G>C
ENST00000679687.1:c.284G>C	ENSP00000506598.1:p.Gly95Ala
ENST00000679704.1:c.*488G>C	ENSP00000505117.1:n.*488G>C
ENST00000679709.1:c.*685G>C	ENSP00000506623.1:n.*685G>C
ENST00000679976.1:c.*306G>C	ENSP00000505565.1:n.*306G>C
ENST00000680166.1:n.4011G>C
ENST00000680517.1:c.*110G>C	ENSP00000505803.1:n.*110G>C
ENST00000680582.1:n.1684G>C
ENST00000680613.1:c.*93G>C	ENSP00000506114.1:n.*93G>C
ENST00000680662.1:c.*636G>C	ENSP00000505080.1:n.*636G>C
ENST00000680691.1:c.*385G>C	ENSP00000506487.1:n.*385G>C
ENST00000680694.1:c.*310G>C	ENSP00000505658.1:n.*310G>C
ENST00000680743.1:c.*389G>C	ENSP00000505073.1:n.*389G>C
ENST00000680749.1:c.*7G>C	ENSP00000505122.1:n.*7G>C
ENST00000680798.1:c.*197G>C	ENSP00000505670.1:n.*197G>C
ENST00000680805.1:c.709-1019G>C	ENSP00000505447.1:n.709-1019G>C
ENST00000680844.1:c.*506G>C	ENSP00000506541.1:n.*506G>C
ENST00000680948.1:c.*589G>C	ENSP00000505441.1:n.*589G>C
ENST00000680964.1:c.722G>C	ENSP00000505961.1:p.Gly241Ala
ENST00000681037.1:c.*2206G>C	ENSP00000506025.1:n.*2206G>C
ENST00000681063.1:c.600-1019G>C	ENSP00000506616.1:n.600-1019G>C
ENST00000681209.1:c.*377G>C	ENSP00000505877.1:n.*377G>C
ENST00000681278.1:n.1079G>C
ENST00000681289.1:n.4717G>C
ENST00000681361.1:c.*389G>C	ENSP00000506679.1:n.*389G>C
ENST00000681430.1:c.722G>C	ENSP00000506301.1:p.Gly241Ala
ENST00000681446.1:c.*304G>C	ENSP00000506244.1:n.*304G>C
ENST00000681450.1:c.*393G>C	ENSP00000505660.1:n.*393G>C
ENST00000681548.1:c.*308G>C	ENSP00000505275.1:n.*308G>C
ENST00000681616.1:c.*381G>C	ENSP00000505111.1:n.*381G>C
ENST00000681621.1:c.*306G>C	ENSP00000505770.1:n.*306G>C
ENST00000681680.1:n.2817G>C
ENST00000681720.1:c.*177G>C	ENSP00000505438.1:n.*177G>C
ENST00000681730.1:n.944G>C
ENST00000681790.1:c.464G>C	ENSP00000505130.1:p.Gly155Ala
ENST00000681837.1:n.1338G>C
ENST00000681913.1:n.2846G>C
ENST00000681916.1:c.*490G>C	ENSP00000506477.1:n.*490G>C
ENST00000681930.1:n.2846G>C
ENST00000370834.9:c.821G>C	ENSP00000359871.5:p.Gly274Ala
ENST00000370841.8:c.722G>C	ENSP00000359878.4:p.Gly241Ala
ENST00000420607.6:c.734G>C	ENSP00000409612.2:p.Gly245Ala
ENST00000525808.5:c.*308G>C	ENSP00000434823.1:n.*308G>C
ENST00000526129.5:c.*506G>C	ENSP00000434092.1:n.*506G>C
ENST00000526196.5:c.*490G>C	ENSP00000431953.1:n.*490G>C
ENST00000526930.1:n.495G>C
ENST00000529059.5:n.631G>C
ENST00000530953.6:c.*219G>C	ENSP00000431372.1:n.*219G>C
ENST00000532207.5:n.452G>C
ENST00000532509.5:c.*486G>C	ENSP00000432522.1:n.*486G>C
ENST00000534334.5:c.*306G>C	ENSP00000435584.1:n.*306G>C
ENST00000541113.5:c.614G>C	ENSP00000442324.1:p.Gly205Ala
NM_000016.5:c.722G>C	NP_000007.1:p.Gly241Ala
NM_001127328.2:c.734G>C	NP_001120800.1:p.Gly245Ala
NM_001286042.1:c.614G>C	NP_001272971.1:p.Gly205Ala
NM_001286043.1:c.821G>C	NP_001272972.1:p.Gly274Ala
NM_001286044.1:c.155G>C	NP_001272973.1:p.Gly52Ala
NM_000016.6:c.722G>C MANE Select	NP_000007.1:p.Gly241Ala
NM_001127328.3:c.734G>C	NP_001120800.1:p.Gly245Ala
NM_001286042.2:c.614G>C	NP_001272971.1:p.Gly205Ala
NM_001286043.2:c.821G>C	NP_001272972.1:p.Gly274Ala
NM_001286044.2:c.155G>C	NP_001272973.1:p.Gly52Ala