Canonical Allele Identifier: CA340818150

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226953T>G (hg19) ; chr1:g.75761268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761268T>G , CM000663.2:g.75761268T>G	GRCh38
NC_000001.10:g.76226953T>G , CM000663.1:g.76226953T>G	GRCh37
NC_000001.9:g.75999541T>G	NCBI36
NG_007045.2:g.41911T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1092T>G MANE Select	ENSP00000359878.5:p.Ile364Met
ENST00000473018.3:n.3216T>G
ENST00000532207.6:n.2103T>G
ENST00000541113.6:c.996T>G	ENSP00000442324.2:p.Ile332Met
ENST00000679509.1:n.2054T>G
ENST00000679530.1:c.*860T>G	ENSP00000506454.1:n.*860T>G
ENST00000679615.1:n.3107T>G
ENST00000679687.1:c.654T>G	ENSP00000506598.1:p.Ile218Met
ENST00000679704.1:c.*858T>G	ENSP00000505117.1:n.*858T>G
ENST00000679709.1:c.*1055T>G	ENSP00000506623.1:n.*1055T>G
ENST00000679976.1:c.*676T>G	ENSP00000505565.1:n.*676T>G
ENST00000680166.1:n.4381T>G
ENST00000680315.1:n.975T>G
ENST00000680517.1:c.*480T>G	ENSP00000505803.1:n.*480T>G
ENST00000680582.1:n.2054T>G
ENST00000680613.1:c.*585T>G	ENSP00000506114.1:n.*585T>G
ENST00000680662.1:c.*1006T>G	ENSP00000505080.1:n.*1006T>G
ENST00000680691.1:c.*755T>G	ENSP00000506487.1:n.*755T>G
ENST00000680694.1:c.*680T>G	ENSP00000505658.1:n.*680T>G
ENST00000680743.1:c.*881T>G	ENSP00000505073.1:n.*881T>G
ENST00000680749.1:c.*377T>G	ENSP00000505122.1:n.*377T>G
ENST00000680798.1:c.*567T>G	ENSP00000505670.1:n.*567T>G
ENST00000680805.1:c.951T>G	ENSP00000505447.1:p.Ile317Met
ENST00000680844.1:c.*876T>G	ENSP00000506541.1:n.*876T>G
ENST00000680948.1:c.*959T>G	ENSP00000505441.1:n.*959T>G
ENST00000680964.1:c.*185T>G	ENSP00000505961.1:n.*185T>G
ENST00000681037.1:c.*2576T>G	ENSP00000506025.1:n.*2576T>G
ENST00000681063.1:c.*361T>G	ENSP00000506616.1:n.*361T>G
ENST00000681209.1:c.*747T>G	ENSP00000505877.1:n.*747T>G
ENST00000681278.1:n.1794T>G
ENST00000681289.1:n.5087T>G
ENST00000681361.1:c.*759T>G	ENSP00000506679.1:n.*759T>G
ENST00000681430.1:c.*185T>G	ENSP00000506301.1:n.*185T>G
ENST00000681446.1:c.*796T>G	ENSP00000506244.1:n.*796T>G
ENST00000681450.1:c.*763T>G	ENSP00000505660.1:n.*763T>G
ENST00000681548.1:c.*678T>G	ENSP00000505275.1:n.*678T>G
ENST00000681616.1:c.*751T>G	ENSP00000505111.1:n.*751T>G
ENST00000681621.1:c.*676T>G	ENSP00000505770.1:n.*676T>G
ENST00000681680.1:n.3187T>G
ENST00000681720.1:c.*547T>G	ENSP00000505438.1:n.*547T>G
ENST00000681730.1:n.1314T>G
ENST00000681790.1:c.834T>G	ENSP00000505130.1:p.Ile278Met
ENST00000681837.1:n.1708T>G
ENST00000681913.1:n.3338T>G
ENST00000681916.1:c.*860T>G	ENSP00000506477.1:n.*860T>G
ENST00000681930.1:n.3216T>G
ENST00000370834.9:c.1191T>G	ENSP00000359871.5:p.Ile397Met
ENST00000370841.8:c.1092T>G	ENSP00000359878.4:p.Ile364Met
ENST00000420607.6:c.1104T>G	ENSP00000409612.2:p.Ile368Met
ENST00000481374.1:n.365T>G
ENST00000525808.5:c.*678T>G	ENSP00000434823.1:n.*678T>G
ENST00000526129.5:c.*876T>G	ENSP00000434092.1:n.*876T>G
ENST00000526196.5:c.*860T>G	ENSP00000431953.1:n.*860T>G
ENST00000528016.1:c.160-7909T>G	ENSP00000434284.1:n.160-7909T>G
ENST00000529059.5:n.1001T>G
ENST00000541113.5:c.984T>G	ENSP00000442324.1:p.Ile328Met
NM_000016.5:c.1092T>G	NP_000007.1:p.Ile364Met
NM_001127328.2:c.1104T>G	NP_001120800.1:p.Ile368Met
NM_001286042.1:c.984T>G	NP_001272971.1:p.Ile328Met
NM_001286043.1:c.1191T>G	NP_001272972.1:p.Ile397Met
NM_001286044.1:c.525T>G	NP_001272973.1:p.Ile175Met
NM_000016.6:c.1092T>G MANE Select	NP_000007.1:p.Ile364Met
NM_001127328.3:c.1104T>G	NP_001120800.1:p.Ile368Met
NM_001286042.2:c.984T>G	NP_001272971.1:p.Ile328Met
NM_001286043.2:c.1191T>G	NP_001272972.1:p.Ile397Met
NM_001286044.2:c.525T>G	NP_001272973.1:p.Ile175Met