Canonical Allele Identifier: CA340816530

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215115G>T (hg19) ; chr1:g.75749430G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749430G>T , CM000663.2:g.75749430G>T	GRCh38
NC_000001.10:g.76215115G>T , CM000663.1:g.76215115G>T	GRCh37
NC_000001.9:g.75987703G>T	NCBI36
NG_007045.2:g.30073G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.720G>T MANE Select	ENSP00000359878.5:p.Met240Ile
ENST00000473018.3:n.2844G>T
ENST00000532207.6:n.1609G>T
ENST00000541113.6:c.720G>T	ENSP00000442324.2:p.Met240Ile
ENST00000679509.1:n.1682G>T
ENST00000679530.1:c.*488G>T	ENSP00000506454.1:n.*488G>T
ENST00000679615.1:n.2735G>T
ENST00000679687.1:c.282G>T	ENSP00000506598.1:p.Met94Ile
ENST00000679704.1:c.*486G>T	ENSP00000505117.1:n.*486G>T
ENST00000679709.1:c.*683G>T	ENSP00000506623.1:n.*683G>T
ENST00000679976.1:c.*304G>T	ENSP00000505565.1:n.*304G>T
ENST00000680166.1:n.4009G>T
ENST00000680517.1:c.*108G>T	ENSP00000505803.1:n.*108G>T
ENST00000680582.1:n.1682G>T
ENST00000680613.1:c.*91G>T	ENSP00000506114.1:n.*91G>T
ENST00000680662.1:c.*634G>T	ENSP00000505080.1:n.*634G>T
ENST00000680691.1:c.*383G>T	ENSP00000506487.1:n.*383G>T
ENST00000680694.1:c.*308G>T	ENSP00000505658.1:n.*308G>T
ENST00000680743.1:c.*387G>T	ENSP00000505073.1:n.*387G>T
ENST00000680749.1:c.*5G>T	ENSP00000505122.1:n.*5G>T
ENST00000680798.1:c.*195G>T	ENSP00000505670.1:n.*195G>T
ENST00000680805.1:c.709-1021G>T	ENSP00000505447.1:n.709-1021G>T
ENST00000680844.1:c.*504G>T	ENSP00000506541.1:n.*504G>T
ENST00000680948.1:c.*587G>T	ENSP00000505441.1:n.*587G>T
ENST00000680964.1:c.720G>T	ENSP00000505961.1:p.Met240Ile
ENST00000681037.1:c.*2204G>T	ENSP00000506025.1:n.*2204G>T
ENST00000681063.1:c.600-1021G>T	ENSP00000506616.1:n.600-1021G>T
ENST00000681209.1:c.*375G>T	ENSP00000505877.1:n.*375G>T
ENST00000681278.1:n.1077G>T
ENST00000681289.1:n.4715G>T
ENST00000681361.1:c.*387G>T	ENSP00000506679.1:n.*387G>T
ENST00000681430.1:c.720G>T	ENSP00000506301.1:p.Met240Ile
ENST00000681446.1:c.*302G>T	ENSP00000506244.1:n.*302G>T
ENST00000681450.1:c.*391G>T	ENSP00000505660.1:n.*391G>T
ENST00000681548.1:c.*306G>T	ENSP00000505275.1:n.*306G>T
ENST00000681616.1:c.*379G>T	ENSP00000505111.1:n.*379G>T
ENST00000681621.1:c.*304G>T	ENSP00000505770.1:n.*304G>T
ENST00000681680.1:n.2815G>T
ENST00000681720.1:c.*175G>T	ENSP00000505438.1:n.*175G>T
ENST00000681730.1:n.942G>T
ENST00000681790.1:c.462G>T	ENSP00000505130.1:p.Met154Ile
ENST00000681837.1:n.1336G>T
ENST00000681913.1:n.2844G>T
ENST00000681916.1:c.*488G>T	ENSP00000506477.1:n.*488G>T
ENST00000681930.1:n.2844G>T
ENST00000370834.9:c.819G>T	ENSP00000359871.5:p.Met273Ile
ENST00000370841.8:c.720G>T	ENSP00000359878.4:p.Met240Ile
ENST00000420607.6:c.732G>T	ENSP00000409612.2:p.Met244Ile
ENST00000525808.5:c.*306G>T	ENSP00000434823.1:n.*306G>T
ENST00000526129.5:c.*504G>T	ENSP00000434092.1:n.*504G>T
ENST00000526196.5:c.*488G>T	ENSP00000431953.1:n.*488G>T
ENST00000526930.1:n.493G>T
ENST00000529059.5:n.629G>T
ENST00000530953.6:c.*217G>T	ENSP00000431372.1:n.*217G>T
ENST00000532207.5:n.450G>T
ENST00000532509.5:c.*484G>T	ENSP00000432522.1:n.*484G>T
ENST00000534334.5:c.*304G>T	ENSP00000435584.1:n.*304G>T
ENST00000541113.5:c.612G>T	ENSP00000442324.1:p.Met204Ile
NM_000016.5:c.720G>T	NP_000007.1:p.Met240Ile
NM_001127328.2:c.732G>T	NP_001120800.1:p.Met244Ile
NM_001286042.1:c.612G>T	NP_001272971.1:p.Met204Ile
NM_001286043.1:c.819G>T	NP_001272972.1:p.Met273Ile
NM_001286044.1:c.153G>T	NP_001272973.1:p.Met51Ile
NM_000016.6:c.720G>T MANE Select	NP_000007.1:p.Met240Ile
NM_001127328.3:c.732G>T	NP_001120800.1:p.Met244Ile
NM_001286042.2:c.612G>T	NP_001272971.1:p.Met204Ile
NM_001286043.2:c.819G>T	NP_001272972.1:p.Met273Ile
NM_001286044.2:c.153G>T	NP_001272973.1:p.Met51Ile