Canonical Allele Identifier: CA340818078

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226919A>C (hg19) ; chr1:g.75761234A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761234A>C , CM000663.2:g.75761234A>C	GRCh38
NC_000001.10:g.76226919A>C , CM000663.1:g.76226919A>C	GRCh37
NC_000001.9:g.75999507A>C	NCBI36
NG_007045.2:g.41877A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1058A>C MANE Select	ENSP00000359878.5:p.Tyr353Ser
ENST00000473018.3:n.3182A>C
ENST00000532207.6:n.2069A>C
ENST00000541113.6:c.962A>C	ENSP00000442324.2:p.Tyr321Ser
ENST00000679509.1:n.2020A>C
ENST00000679530.1:c.*826A>C	ENSP00000506454.1:n.*826A>C
ENST00000679615.1:n.3073A>C
ENST00000679687.1:c.620A>C	ENSP00000506598.1:p.Tyr207Ser
ENST00000679704.1:c.*824A>C	ENSP00000505117.1:n.*824A>C
ENST00000679709.1:c.*1021A>C	ENSP00000506623.1:n.*1021A>C
ENST00000679976.1:c.*642A>C	ENSP00000505565.1:n.*642A>C
ENST00000680166.1:n.4347A>C
ENST00000680315.1:n.941A>C
ENST00000680517.1:c.*446A>C	ENSP00000505803.1:n.*446A>C
ENST00000680582.1:n.2020A>C
ENST00000680613.1:c.*551A>C	ENSP00000506114.1:n.*551A>C
ENST00000680662.1:c.*972A>C	ENSP00000505080.1:n.*972A>C
ENST00000680691.1:c.*721A>C	ENSP00000506487.1:n.*721A>C
ENST00000680694.1:c.*646A>C	ENSP00000505658.1:n.*646A>C
ENST00000680743.1:c.*847A>C	ENSP00000505073.1:n.*847A>C
ENST00000680749.1:c.*343A>C	ENSP00000505122.1:n.*343A>C
ENST00000680798.1:c.*533A>C	ENSP00000505670.1:n.*533A>C
ENST00000680805.1:c.917A>C	ENSP00000505447.1:p.Tyr306Ser
ENST00000680844.1:c.*842A>C	ENSP00000506541.1:n.*842A>C
ENST00000680948.1:c.*925A>C	ENSP00000505441.1:n.*925A>C
ENST00000680964.1:c.*151A>C	ENSP00000505961.1:n.*151A>C
ENST00000681037.1:c.*2542A>C	ENSP00000506025.1:n.*2542A>C
ENST00000681063.1:c.*327A>C	ENSP00000506616.1:n.*327A>C
ENST00000681209.1:c.*713A>C	ENSP00000505877.1:n.*713A>C
ENST00000681278.1:n.1760A>C
ENST00000681289.1:n.5053A>C
ENST00000681361.1:c.*725A>C	ENSP00000506679.1:n.*725A>C
ENST00000681430.1:c.*151A>C	ENSP00000506301.1:n.*151A>C
ENST00000681446.1:c.*762A>C	ENSP00000506244.1:n.*762A>C
ENST00000681450.1:c.*729A>C	ENSP00000505660.1:n.*729A>C
ENST00000681548.1:c.*644A>C	ENSP00000505275.1:n.*644A>C
ENST00000681616.1:c.*717A>C	ENSP00000505111.1:n.*717A>C
ENST00000681621.1:c.*642A>C	ENSP00000505770.1:n.*642A>C
ENST00000681680.1:n.3153A>C
ENST00000681720.1:c.*513A>C	ENSP00000505438.1:n.*513A>C
ENST00000681730.1:n.1280A>C
ENST00000681790.1:c.800A>C	ENSP00000505130.1:p.Tyr267Ser
ENST00000681837.1:n.1674A>C
ENST00000681913.1:n.3304A>C
ENST00000681916.1:c.*826A>C	ENSP00000506477.1:n.*826A>C
ENST00000681930.1:n.3182A>C
ENST00000370834.9:c.1157A>C	ENSP00000359871.5:p.Tyr386Ser
ENST00000370841.8:c.1058A>C	ENSP00000359878.4:p.Tyr353Ser
ENST00000420607.6:c.1070A>C	ENSP00000409612.2:p.Tyr357Ser
ENST00000481374.1:n.331A>C
ENST00000525808.5:c.*644A>C	ENSP00000434823.1:n.*644A>C
ENST00000526129.5:c.*842A>C	ENSP00000434092.1:n.*842A>C
ENST00000526196.5:c.*826A>C	ENSP00000431953.1:n.*826A>C
ENST00000528016.1:c.160-7943A>C	ENSP00000434284.1:n.160-7943A>C
ENST00000529059.5:n.967A>C
ENST00000534334.5:c.*799A>C	ENSP00000435584.1:n.*799A>C
ENST00000541113.5:c.950A>C	ENSP00000442324.1:p.Tyr317Ser
NM_000016.5:c.1058A>C	NP_000007.1:p.Tyr353Ser
NM_001127328.2:c.1070A>C	NP_001120800.1:p.Tyr357Ser
NM_001286042.1:c.950A>C	NP_001272971.1:p.Tyr317Ser
NM_001286043.1:c.1157A>C	NP_001272972.1:p.Tyr386Ser
NM_001286044.1:c.491A>C	NP_001272973.1:p.Tyr164Ser
NM_000016.6:c.1058A>C MANE Select	NP_000007.1:p.Tyr353Ser
NM_001127328.3:c.1070A>C	NP_001120800.1:p.Tyr357Ser
NM_001286042.2:c.950A>C	NP_001272971.1:p.Tyr317Ser
NM_001286043.2:c.1157A>C	NP_001272972.1:p.Tyr386Ser
NM_001286044.2:c.491A>C	NP_001272973.1:p.Tyr164Ser