Canonical Allele Identifier: CA340818054

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226907G>C (hg19) ; chr1:g.75761222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761222G>C , CM000663.2:g.75761222G>C	GRCh38
NC_000001.10:g.76226907G>C , CM000663.1:g.76226907G>C	GRCh37
NC_000001.9:g.75999495G>C	NCBI36
NG_007045.2:g.41865G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1046G>C MANE Select	ENSP00000359878.5:p.Arg349Pro
ENST00000473018.3:n.3170G>C
ENST00000532207.6:n.2057G>C
ENST00000541113.6:c.950G>C	ENSP00000442324.2:p.Arg317Pro
ENST00000679509.1:n.2008G>C
ENST00000679530.1:c.*814G>C	ENSP00000506454.1:n.*814G>C
ENST00000679615.1:n.3061G>C
ENST00000679687.1:c.608G>C	ENSP00000506598.1:p.Arg203Pro
ENST00000679704.1:c.*812G>C	ENSP00000505117.1:n.*812G>C
ENST00000679709.1:c.*1009G>C	ENSP00000506623.1:n.*1009G>C
ENST00000679976.1:c.*630G>C	ENSP00000505565.1:n.*630G>C
ENST00000680166.1:n.4335G>C
ENST00000680315.1:n.929G>C
ENST00000680517.1:c.*434G>C	ENSP00000505803.1:n.*434G>C
ENST00000680582.1:n.2008G>C
ENST00000680613.1:c.*539G>C	ENSP00000506114.1:n.*539G>C
ENST00000680662.1:c.*960G>C	ENSP00000505080.1:n.*960G>C
ENST00000680691.1:c.*709G>C	ENSP00000506487.1:n.*709G>C
ENST00000680694.1:c.*634G>C	ENSP00000505658.1:n.*634G>C
ENST00000680743.1:c.*835G>C	ENSP00000505073.1:n.*835G>C
ENST00000680749.1:c.*331G>C	ENSP00000505122.1:n.*331G>C
ENST00000680798.1:c.*521G>C	ENSP00000505670.1:n.*521G>C
ENST00000680805.1:c.905G>C	ENSP00000505447.1:p.Arg302Pro
ENST00000680844.1:c.*830G>C	ENSP00000506541.1:n.*830G>C
ENST00000680948.1:c.*913G>C	ENSP00000505441.1:n.*913G>C
ENST00000680964.1:c.*139G>C	ENSP00000505961.1:n.*139G>C
ENST00000681037.1:c.*2530G>C	ENSP00000506025.1:n.*2530G>C
ENST00000681063.1:c.*315G>C	ENSP00000506616.1:n.*315G>C
ENST00000681209.1:c.*701G>C	ENSP00000505877.1:n.*701G>C
ENST00000681278.1:n.1748G>C
ENST00000681289.1:n.5041G>C
ENST00000681361.1:c.*713G>C	ENSP00000506679.1:n.*713G>C
ENST00000681430.1:c.*139G>C	ENSP00000506301.1:n.*139G>C
ENST00000681446.1:c.*750G>C	ENSP00000506244.1:n.*750G>C
ENST00000681450.1:c.*717G>C	ENSP00000505660.1:n.*717G>C
ENST00000681548.1:c.*632G>C	ENSP00000505275.1:n.*632G>C
ENST00000681616.1:c.*705G>C	ENSP00000505111.1:n.*705G>C
ENST00000681621.1:c.*630G>C	ENSP00000505770.1:n.*630G>C
ENST00000681680.1:n.3141G>C
ENST00000681720.1:c.*501G>C	ENSP00000505438.1:n.*501G>C
ENST00000681730.1:n.1268G>C
ENST00000681790.1:c.788G>C	ENSP00000505130.1:p.Arg263Pro
ENST00000681837.1:n.1662G>C
ENST00000681913.1:n.3292G>C
ENST00000681916.1:c.*814G>C	ENSP00000506477.1:n.*814G>C
ENST00000681930.1:n.3170G>C
ENST00000370834.9:c.1145G>C	ENSP00000359871.5:p.Arg382Pro
ENST00000370841.8:c.1046G>C	ENSP00000359878.4:p.Arg349Pro
ENST00000420607.6:c.1058G>C	ENSP00000409612.2:p.Arg353Pro
ENST00000481374.1:n.319G>C
ENST00000525808.5:c.*632G>C	ENSP00000434823.1:n.*632G>C
ENST00000526129.5:c.*830G>C	ENSP00000434092.1:n.*830G>C
ENST00000526196.5:c.*814G>C	ENSP00000431953.1:n.*814G>C
ENST00000528016.1:c.160-7955G>C	ENSP00000434284.1:n.160-7955G>C
ENST00000529059.5:n.955G>C
ENST00000534334.5:c.*787G>C	ENSP00000435584.1:n.*787G>C
ENST00000541113.5:c.938G>C	ENSP00000442324.1:p.Arg313Pro
NM_000016.5:c.1046G>C	NP_000007.1:p.Arg349Pro
NM_001127328.2:c.1058G>C	NP_001120800.1:p.Arg353Pro
NM_001286042.1:c.938G>C	NP_001272971.1:p.Arg313Pro
NM_001286043.1:c.1145G>C	NP_001272972.1:p.Arg382Pro
NM_001286044.1:c.479G>C	NP_001272973.1:p.Arg160Pro
NM_000016.6:c.1046G>C MANE Select	NP_000007.1:p.Arg349Pro
NM_001127328.3:c.1058G>C	NP_001120800.1:p.Arg353Pro
NM_001286042.2:c.938G>C	NP_001272971.1:p.Arg313Pro
NM_001286043.2:c.1145G>C	NP_001272972.1:p.Arg382Pro
NM_001286044.2:c.479G>C	NP_001272973.1:p.Arg160Pro