Canonical Allele Identifier: CA340817876

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226826T>C (hg19) ; chr1:g.75761141T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761141T>C , CM000663.2:g.75761141T>C	GRCh38
NC_000001.10:g.76226826T>C , CM000663.1:g.76226826T>C	GRCh37
NC_000001.9:g.75999414T>C	NCBI36
NG_007045.2:g.41784T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.965T>C MANE Select	ENSP00000359878.5:p.Met322Thr
ENST00000473018.3:n.3089T>C
ENST00000532207.6:n.1976T>C
ENST00000541113.6:c.869T>C	ENSP00000442324.2:p.Met290Thr
ENST00000679509.1:n.1927T>C
ENST00000679530.1:c.*733T>C	ENSP00000506454.1:n.*733T>C
ENST00000679615.1:n.2980T>C
ENST00000679687.1:c.527T>C	ENSP00000506598.1:p.Met176Thr
ENST00000679704.1:c.*731T>C	ENSP00000505117.1:n.*731T>C
ENST00000679709.1:c.*928T>C	ENSP00000506623.1:n.*928T>C
ENST00000679976.1:c.*549T>C	ENSP00000505565.1:n.*549T>C
ENST00000680166.1:n.4254T>C
ENST00000680315.1:n.848T>C
ENST00000680517.1:c.*353T>C	ENSP00000505803.1:n.*353T>C
ENST00000680582.1:n.1927T>C
ENST00000680613.1:c.*458T>C	ENSP00000506114.1:n.*458T>C
ENST00000680662.1:c.*879T>C	ENSP00000505080.1:n.*879T>C
ENST00000680691.1:c.*628T>C	ENSP00000506487.1:n.*628T>C
ENST00000680694.1:c.*553T>C	ENSP00000505658.1:n.*553T>C
ENST00000680743.1:c.*754T>C	ENSP00000505073.1:n.*754T>C
ENST00000680749.1:c.*250T>C	ENSP00000505122.1:n.*250T>C
ENST00000680798.1:c.*440T>C	ENSP00000505670.1:n.*440T>C
ENST00000680805.1:c.824T>C	ENSP00000505447.1:p.Met275Thr
ENST00000680844.1:c.*749T>C	ENSP00000506541.1:n.*749T>C
ENST00000680948.1:c.*832T>C	ENSP00000505441.1:n.*832T>C
ENST00000680964.1:c.*58T>C	ENSP00000505961.1:n.*58T>C
ENST00000681037.1:c.*2449T>C	ENSP00000506025.1:n.*2449T>C
ENST00000681063.1:c.*234T>C	ENSP00000506616.1:n.*234T>C
ENST00000681209.1:c.*620T>C	ENSP00000505877.1:n.*620T>C
ENST00000681278.1:n.1667T>C
ENST00000681289.1:n.4960T>C
ENST00000681361.1:c.*632T>C	ENSP00000506679.1:n.*632T>C
ENST00000681430.1:c.*58T>C	ENSP00000506301.1:n.*58T>C
ENST00000681446.1:c.*669T>C	ENSP00000506244.1:n.*669T>C
ENST00000681450.1:c.*636T>C	ENSP00000505660.1:n.*636T>C
ENST00000681548.1:c.*551T>C	ENSP00000505275.1:n.*551T>C
ENST00000681616.1:c.*624T>C	ENSP00000505111.1:n.*624T>C
ENST00000681621.1:c.*549T>C	ENSP00000505770.1:n.*549T>C
ENST00000681680.1:n.3060T>C
ENST00000681720.1:c.*420T>C	ENSP00000505438.1:n.*420T>C
ENST00000681730.1:n.1187T>C
ENST00000681790.1:c.707T>C	ENSP00000505130.1:p.Met236Thr
ENST00000681837.1:n.1581T>C
ENST00000681913.1:n.3211T>C
ENST00000681916.1:c.*733T>C	ENSP00000506477.1:n.*733T>C
ENST00000681930.1:n.3089T>C
ENST00000370834.9:c.1064T>C	ENSP00000359871.5:p.Met355Thr
ENST00000370841.8:c.965T>C	ENSP00000359878.4:p.Met322Thr
ENST00000420607.6:c.977T>C	ENSP00000409612.2:p.Met326Thr
ENST00000481374.1:n.238T>C
ENST00000525808.5:c.*551T>C	ENSP00000434823.1:n.*551T>C
ENST00000526129.5:c.*749T>C	ENSP00000434092.1:n.*749T>C
ENST00000526196.5:c.*733T>C	ENSP00000431953.1:n.*733T>C
ENST00000528016.1:c.160-8036T>C	ENSP00000434284.1:n.160-8036T>C
ENST00000529059.5:n.874T>C
ENST00000532207.5:n.695T>C
ENST00000534334.5:c.*706T>C	ENSP00000435584.1:n.*706T>C
ENST00000541113.5:c.857T>C	ENSP00000442324.1:p.Met286Thr
NM_000016.5:c.965T>C	NP_000007.1:p.Met322Thr
NM_001127328.2:c.977T>C	NP_001120800.1:p.Met326Thr
NM_001286042.1:c.857T>C	NP_001272971.1:p.Met286Thr
NM_001286043.1:c.1064T>C	NP_001272972.1:p.Met355Thr
NM_001286044.1:c.398T>C	NP_001272973.1:p.Met133Thr
NM_000016.6:c.965T>C MANE Select	NP_000007.1:p.Met322Thr
NM_001127328.3:c.977T>C	NP_001120800.1:p.Met326Thr
NM_001286042.2:c.857T>C	NP_001272971.1:p.Met286Thr
NM_001286043.2:c.1064T>C	NP_001272972.1:p.Met355Thr
NM_001286044.2:c.398T>C	NP_001272973.1:p.Met133Thr