Canonical Allele Identifier: CA340817880

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226827G>C (hg19) ; chr1:g.75761142G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761142G>C , CM000663.2:g.75761142G>C	GRCh38
NC_000001.10:g.76226827G>C , CM000663.1:g.76226827G>C	GRCh37
NC_000001.9:g.75999415G>C	NCBI36
NG_007045.2:g.41785G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.966G>C MANE Select	ENSP00000359878.5:p.Met322Ile
ENST00000473018.3:n.3090G>C
ENST00000532207.6:n.1977G>C
ENST00000541113.6:c.870G>C	ENSP00000442324.2:p.Met290Ile
ENST00000679509.1:n.1928G>C
ENST00000679530.1:c.*734G>C	ENSP00000506454.1:n.*734G>C
ENST00000679615.1:n.2981G>C
ENST00000679687.1:c.528G>C	ENSP00000506598.1:p.Met176Ile
ENST00000679704.1:c.*732G>C	ENSP00000505117.1:n.*732G>C
ENST00000679709.1:c.*929G>C	ENSP00000506623.1:n.*929G>C
ENST00000679976.1:c.*550G>C	ENSP00000505565.1:n.*550G>C
ENST00000680166.1:n.4255G>C
ENST00000680315.1:n.849G>C
ENST00000680517.1:c.*354G>C	ENSP00000505803.1:n.*354G>C
ENST00000680582.1:n.1928G>C
ENST00000680613.1:c.*459G>C	ENSP00000506114.1:n.*459G>C
ENST00000680662.1:c.*880G>C	ENSP00000505080.1:n.*880G>C
ENST00000680691.1:c.*629G>C	ENSP00000506487.1:n.*629G>C
ENST00000680694.1:c.*554G>C	ENSP00000505658.1:n.*554G>C
ENST00000680743.1:c.*755G>C	ENSP00000505073.1:n.*755G>C
ENST00000680749.1:c.*251G>C	ENSP00000505122.1:n.*251G>C
ENST00000680798.1:c.*441G>C	ENSP00000505670.1:n.*441G>C
ENST00000680805.1:c.825G>C	ENSP00000505447.1:p.Met275Ile
ENST00000680844.1:c.*750G>C	ENSP00000506541.1:n.*750G>C
ENST00000680948.1:c.*833G>C	ENSP00000505441.1:n.*833G>C
ENST00000680964.1:c.*59G>C	ENSP00000505961.1:n.*59G>C
ENST00000681037.1:c.*2450G>C	ENSP00000506025.1:n.*2450G>C
ENST00000681063.1:c.*235G>C	ENSP00000506616.1:n.*235G>C
ENST00000681209.1:c.*621G>C	ENSP00000505877.1:n.*621G>C
ENST00000681278.1:n.1668G>C
ENST00000681289.1:n.4961G>C
ENST00000681361.1:c.*633G>C	ENSP00000506679.1:n.*633G>C
ENST00000681430.1:c.*59G>C	ENSP00000506301.1:n.*59G>C
ENST00000681446.1:c.*670G>C	ENSP00000506244.1:n.*670G>C
ENST00000681450.1:c.*637G>C	ENSP00000505660.1:n.*637G>C
ENST00000681548.1:c.*552G>C	ENSP00000505275.1:n.*552G>C
ENST00000681616.1:c.*625G>C	ENSP00000505111.1:n.*625G>C
ENST00000681621.1:c.*550G>C	ENSP00000505770.1:n.*550G>C
ENST00000681680.1:n.3061G>C
ENST00000681720.1:c.*421G>C	ENSP00000505438.1:n.*421G>C
ENST00000681730.1:n.1188G>C
ENST00000681790.1:c.708G>C	ENSP00000505130.1:p.Met236Ile
ENST00000681837.1:n.1582G>C
ENST00000681913.1:n.3212G>C
ENST00000681916.1:c.*734G>C	ENSP00000506477.1:n.*734G>C
ENST00000681930.1:n.3090G>C
ENST00000370834.9:c.1065G>C	ENSP00000359871.5:p.Met355Ile
ENST00000370841.8:c.966G>C	ENSP00000359878.4:p.Met322Ile
ENST00000420607.6:c.978G>C	ENSP00000409612.2:p.Met326Ile
ENST00000481374.1:n.239G>C
ENST00000525808.5:c.*552G>C	ENSP00000434823.1:n.*552G>C
ENST00000526129.5:c.*750G>C	ENSP00000434092.1:n.*750G>C
ENST00000526196.5:c.*734G>C	ENSP00000431953.1:n.*734G>C
ENST00000528016.1:c.160-8035G>C	ENSP00000434284.1:n.160-8035G>C
ENST00000529059.5:n.875G>C
ENST00000532207.5:n.696G>C
ENST00000534334.5:c.*707G>C	ENSP00000435584.1:n.*707G>C
ENST00000541113.5:c.858G>C	ENSP00000442324.1:p.Met286Ile
NM_000016.5:c.966G>C	NP_000007.1:p.Met322Ile
NM_001127328.2:c.978G>C	NP_001120800.1:p.Met326Ile
NM_001286042.1:c.858G>C	NP_001272971.1:p.Met286Ile
NM_001286043.1:c.1065G>C	NP_001272972.1:p.Met355Ile
NM_001286044.1:c.399G>C	NP_001272973.1:p.Met133Ile
NM_000016.6:c.966G>C MANE Select	NP_000007.1:p.Met322Ile
NM_001127328.3:c.978G>C	NP_001120800.1:p.Met326Ile
NM_001286042.2:c.858G>C	NP_001272971.1:p.Met286Ile
NM_001286043.2:c.1065G>C	NP_001272972.1:p.Met355Ile
NM_001286044.2:c.399G>C	NP_001272973.1:p.Met133Ile