Canonical Allele Identifier: CA340817969

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226867A>C (hg19) ; chr1:g.75761182A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761182A>C , CM000663.2:g.75761182A>C	GRCh38
NC_000001.10:g.76226867A>C , CM000663.1:g.76226867A>C	GRCh37
NC_000001.9:g.75999455A>C	NCBI36
NG_007045.2:g.41825A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1006A>C MANE Select	ENSP00000359878.5:p.Ser336Arg
ENST00000473018.3:n.3130A>C
ENST00000532207.6:n.2017A>C
ENST00000541113.6:c.910A>C	ENSP00000442324.2:p.Ser304Arg
ENST00000679509.1:n.1968A>C
ENST00000679530.1:c.*774A>C	ENSP00000506454.1:n.*774A>C
ENST00000679615.1:n.3021A>C
ENST00000679687.1:c.568A>C	ENSP00000506598.1:p.Ser190Arg
ENST00000679704.1:c.*772A>C	ENSP00000505117.1:n.*772A>C
ENST00000679709.1:c.*969A>C	ENSP00000506623.1:n.*969A>C
ENST00000679976.1:c.*590A>C	ENSP00000505565.1:n.*590A>C
ENST00000680166.1:n.4295A>C
ENST00000680315.1:n.889A>C
ENST00000680517.1:c.*394A>C	ENSP00000505803.1:n.*394A>C
ENST00000680582.1:n.1968A>C
ENST00000680613.1:c.*499A>C	ENSP00000506114.1:n.*499A>C
ENST00000680662.1:c.*920A>C	ENSP00000505080.1:n.*920A>C
ENST00000680691.1:c.*669A>C	ENSP00000506487.1:n.*669A>C
ENST00000680694.1:c.*594A>C	ENSP00000505658.1:n.*594A>C
ENST00000680743.1:c.*795A>C	ENSP00000505073.1:n.*795A>C
ENST00000680749.1:c.*291A>C	ENSP00000505122.1:n.*291A>C
ENST00000680798.1:c.*481A>C	ENSP00000505670.1:n.*481A>C
ENST00000680805.1:c.865A>C	ENSP00000505447.1:p.Ser289Arg
ENST00000680844.1:c.*790A>C	ENSP00000506541.1:n.*790A>C
ENST00000680948.1:c.*873A>C	ENSP00000505441.1:n.*873A>C
ENST00000680964.1:c.*99A>C	ENSP00000505961.1:n.*99A>C
ENST00000681037.1:c.*2490A>C	ENSP00000506025.1:n.*2490A>C
ENST00000681063.1:c.*275A>C	ENSP00000506616.1:n.*275A>C
ENST00000681209.1:c.*661A>C	ENSP00000505877.1:n.*661A>C
ENST00000681278.1:n.1708A>C
ENST00000681289.1:n.5001A>C
ENST00000681361.1:c.*673A>C	ENSP00000506679.1:n.*673A>C
ENST00000681430.1:c.*99A>C	ENSP00000506301.1:n.*99A>C
ENST00000681446.1:c.*710A>C	ENSP00000506244.1:n.*710A>C
ENST00000681450.1:c.*677A>C	ENSP00000505660.1:n.*677A>C
ENST00000681548.1:c.*592A>C	ENSP00000505275.1:n.*592A>C
ENST00000681616.1:c.*665A>C	ENSP00000505111.1:n.*665A>C
ENST00000681621.1:c.*590A>C	ENSP00000505770.1:n.*590A>C
ENST00000681680.1:n.3101A>C
ENST00000681720.1:c.*461A>C	ENSP00000505438.1:n.*461A>C
ENST00000681730.1:n.1228A>C
ENST00000681790.1:c.748A>C	ENSP00000505130.1:p.Ser250Arg
ENST00000681837.1:n.1622A>C
ENST00000681913.1:n.3252A>C
ENST00000681916.1:c.*774A>C	ENSP00000506477.1:n.*774A>C
ENST00000681930.1:n.3130A>C
ENST00000370834.9:c.1105A>C	ENSP00000359871.5:p.Ser369Arg
ENST00000370841.8:c.1006A>C	ENSP00000359878.4:p.Ser336Arg
ENST00000420607.6:c.1018A>C	ENSP00000409612.2:p.Ser340Arg
ENST00000481374.1:n.279A>C
ENST00000525808.5:c.*592A>C	ENSP00000434823.1:n.*592A>C
ENST00000526129.5:c.*790A>C	ENSP00000434092.1:n.*790A>C
ENST00000526196.5:c.*774A>C	ENSP00000431953.1:n.*774A>C
ENST00000528016.1:c.160-7995A>C	ENSP00000434284.1:n.160-7995A>C
ENST00000529059.5:n.915A>C
ENST00000532207.5:n.736A>C
ENST00000534334.5:c.*747A>C	ENSP00000435584.1:n.*747A>C
ENST00000541113.5:c.898A>C	ENSP00000442324.1:p.Ser300Arg
NM_000016.5:c.1006A>C	NP_000007.1:p.Ser336Arg
NM_001127328.2:c.1018A>C	NP_001120800.1:p.Ser340Arg
NM_001286042.1:c.898A>C	NP_001272971.1:p.Ser300Arg
NM_001286043.1:c.1105A>C	NP_001272972.1:p.Ser369Arg
NM_001286044.1:c.439A>C	NP_001272973.1:p.Ser147Arg
NM_000016.6:c.1006A>C MANE Select	NP_000007.1:p.Ser336Arg
NM_001127328.3:c.1018A>C	NP_001120800.1:p.Ser340Arg
NM_001286042.2:c.898A>C	NP_001272971.1:p.Ser300Arg
NM_001286043.2:c.1105A>C	NP_001272972.1:p.Ser369Arg
NM_001286044.2:c.439A>C	NP_001272973.1:p.Ser147Arg