Canonical Allele Identifier: CA340816815

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215233A>C (hg19) ; chr1:g.75749548A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749548A>C , CM000663.2:g.75749548A>C	GRCh38
NC_000001.10:g.76215233A>C , CM000663.1:g.76215233A>C	GRCh37
NC_000001.9:g.75987821A>C	NCBI36
NG_007045.2:g.30191A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.838A>C MANE Select	ENSP00000359878.5:p.Thr280Pro
ENST00000473018.3:n.2962A>C
ENST00000532207.6:n.1727A>C
ENST00000541113.6:c.838A>C	ENSP00000442324.2:p.Thr280Pro
ENST00000679509.1:n.1800A>C
ENST00000679530.1:c.*606A>C	ENSP00000506454.1:n.*606A>C
ENST00000679615.1:n.2853A>C
ENST00000679687.1:c.400A>C	ENSP00000506598.1:p.Thr134Pro
ENST00000679704.1:c.*604A>C	ENSP00000505117.1:n.*604A>C
ENST00000679709.1:c.*801A>C	ENSP00000506623.1:n.*801A>C
ENST00000679976.1:c.*422A>C	ENSP00000505565.1:n.*422A>C
ENST00000680166.1:n.4127A>C
ENST00000680517.1:c.*226A>C	ENSP00000505803.1:n.*226A>C
ENST00000680582.1:n.1800A>C
ENST00000680613.1:c.*209A>C	ENSP00000506114.1:n.*209A>C
ENST00000680662.1:c.*752A>C	ENSP00000505080.1:n.*752A>C
ENST00000680691.1:c.*501A>C	ENSP00000506487.1:n.*501A>C
ENST00000680694.1:c.*426A>C	ENSP00000505658.1:n.*426A>C
ENST00000680743.1:c.*505A>C	ENSP00000505073.1:n.*505A>C
ENST00000680749.1:c.*123A>C	ENSP00000505122.1:n.*123A>C
ENST00000680798.1:c.*313A>C	ENSP00000505670.1:n.*313A>C
ENST00000680805.1:c.709-903A>C	ENSP00000505447.1:n.709-903A>C
ENST00000680844.1:c.*622A>C	ENSP00000506541.1:n.*622A>C
ENST00000680948.1:c.*705A>C	ENSP00000505441.1:n.*705A>C
ENST00000680964.1:c.838A>C	ENSP00000505961.1:p.Thr280Pro
ENST00000681037.1:c.*2322A>C	ENSP00000506025.1:n.*2322A>C
ENST00000681063.1:c.600-903A>C	ENSP00000506616.1:n.600-903A>C
ENST00000681209.1:c.*493A>C	ENSP00000505877.1:n.*493A>C
ENST00000681278.1:n.1195A>C
ENST00000681289.1:n.4833A>C
ENST00000681361.1:c.*505A>C	ENSP00000506679.1:n.*505A>C
ENST00000681430.1:c.838A>C	ENSP00000506301.1:p.Thr280Pro
ENST00000681446.1:c.*420A>C	ENSP00000506244.1:n.*420A>C
ENST00000681450.1:c.*509A>C	ENSP00000505660.1:n.*509A>C
ENST00000681548.1:c.*424A>C	ENSP00000505275.1:n.*424A>C
ENST00000681616.1:c.*497A>C	ENSP00000505111.1:n.*497A>C
ENST00000681621.1:c.*422A>C	ENSP00000505770.1:n.*422A>C
ENST00000681680.1:n.2933A>C
ENST00000681720.1:c.*293A>C	ENSP00000505438.1:n.*293A>C
ENST00000681730.1:n.1060A>C
ENST00000681790.1:c.580A>C	ENSP00000505130.1:p.Thr194Pro
ENST00000681837.1:n.1454A>C
ENST00000681913.1:n.2962A>C
ENST00000681916.1:c.*606A>C	ENSP00000506477.1:n.*606A>C
ENST00000681930.1:n.2962A>C
ENST00000370834.9:c.937A>C	ENSP00000359871.5:p.Thr313Pro
ENST00000370841.8:c.838A>C	ENSP00000359878.4:p.Thr280Pro
ENST00000420607.6:c.850A>C	ENSP00000409612.2:p.Thr284Pro
ENST00000525808.5:c.*424A>C	ENSP00000434823.1:n.*424A>C
ENST00000526129.5:c.*622A>C	ENSP00000434092.1:n.*622A>C
ENST00000526196.5:c.*606A>C	ENSP00000431953.1:n.*606A>C
ENST00000528016.1:c.52A>C	ENSP00000434284.1:p.Thr18Pro
ENST00000529059.5:n.747A>C
ENST00000532207.5:n.568A>C
ENST00000532509.5:c.*602A>C	ENSP00000432522.1:n.*602A>C
ENST00000534334.5:c.*422A>C	ENSP00000435584.1:n.*422A>C
ENST00000541113.5:c.730A>C	ENSP00000442324.1:p.Thr244Pro
NM_000016.5:c.838A>C	NP_000007.1:p.Thr280Pro
NM_001127328.2:c.850A>C	NP_001120800.1:p.Thr284Pro
NM_001286042.1:c.730A>C	NP_001272971.1:p.Thr244Pro
NM_001286043.1:c.937A>C	NP_001272972.1:p.Thr313Pro
NM_001286044.1:c.271A>C	NP_001272973.1:p.Thr91Pro
NM_000016.6:c.838A>C MANE Select	NP_000007.1:p.Thr280Pro
NM_001127328.3:c.850A>C	NP_001120800.1:p.Thr284Pro
NM_001286042.2:c.730A>C	NP_001272971.1:p.Thr244Pro
NM_001286043.2:c.937A>C	NP_001272972.1:p.Thr313Pro
NM_001286044.2:c.271A>C	NP_001272973.1:p.Thr91Pro