Canonical Allele Identifier: CA340817868

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226823T>C (hg19) ; chr1:g.75761138T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761138T>C , CM000663.2:g.75761138T>C	GRCh38
NC_000001.10:g.76226823T>C , CM000663.1:g.76226823T>C	GRCh37
NC_000001.9:g.75999411T>C	NCBI36
NG_007045.2:g.41781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.962T>C MANE Select	ENSP00000359878.5:p.Phe321Ser
ENST00000473018.3:n.3086T>C
ENST00000532207.6:n.1973T>C
ENST00000541113.6:c.866T>C	ENSP00000442324.2:p.Phe289Ser
ENST00000679509.1:n.1924T>C
ENST00000679530.1:c.*730T>C	ENSP00000506454.1:n.*730T>C
ENST00000679615.1:n.2977T>C
ENST00000679687.1:c.524T>C	ENSP00000506598.1:p.Phe175Ser
ENST00000679704.1:c.*728T>C	ENSP00000505117.1:n.*728T>C
ENST00000679709.1:c.*925T>C	ENSP00000506623.1:n.*925T>C
ENST00000679976.1:c.*546T>C	ENSP00000505565.1:n.*546T>C
ENST00000680166.1:n.4251T>C
ENST00000680315.1:n.845T>C
ENST00000680517.1:c.*350T>C	ENSP00000505803.1:n.*350T>C
ENST00000680582.1:n.1924T>C
ENST00000680613.1:c.*455T>C	ENSP00000506114.1:n.*455T>C
ENST00000680662.1:c.*876T>C	ENSP00000505080.1:n.*876T>C
ENST00000680691.1:c.*625T>C	ENSP00000506487.1:n.*625T>C
ENST00000680694.1:c.*550T>C	ENSP00000505658.1:n.*550T>C
ENST00000680743.1:c.*751T>C	ENSP00000505073.1:n.*751T>C
ENST00000680749.1:c.*247T>C	ENSP00000505122.1:n.*247T>C
ENST00000680798.1:c.*437T>C	ENSP00000505670.1:n.*437T>C
ENST00000680805.1:c.821T>C	ENSP00000505447.1:p.Phe274Ser
ENST00000680844.1:c.*746T>C	ENSP00000506541.1:n.*746T>C
ENST00000680948.1:c.*829T>C	ENSP00000505441.1:n.*829T>C
ENST00000680964.1:c.*55T>C	ENSP00000505961.1:n.*55T>C
ENST00000681037.1:c.*2446T>C	ENSP00000506025.1:n.*2446T>C
ENST00000681063.1:c.*231T>C	ENSP00000506616.1:n.*231T>C
ENST00000681209.1:c.*617T>C	ENSP00000505877.1:n.*617T>C
ENST00000681278.1:n.1664T>C
ENST00000681289.1:n.4957T>C
ENST00000681361.1:c.*629T>C	ENSP00000506679.1:n.*629T>C
ENST00000681430.1:c.*55T>C	ENSP00000506301.1:n.*55T>C
ENST00000681446.1:c.*666T>C	ENSP00000506244.1:n.*666T>C
ENST00000681450.1:c.*633T>C	ENSP00000505660.1:n.*633T>C
ENST00000681548.1:c.*548T>C	ENSP00000505275.1:n.*548T>C
ENST00000681616.1:c.*621T>C	ENSP00000505111.1:n.*621T>C
ENST00000681621.1:c.*546T>C	ENSP00000505770.1:n.*546T>C
ENST00000681680.1:n.3057T>C
ENST00000681720.1:c.*417T>C	ENSP00000505438.1:n.*417T>C
ENST00000681730.1:n.1184T>C
ENST00000681790.1:c.704T>C	ENSP00000505130.1:p.Phe235Ser
ENST00000681837.1:n.1578T>C
ENST00000681913.1:n.3208T>C
ENST00000681916.1:c.*730T>C	ENSP00000506477.1:n.*730T>C
ENST00000681930.1:n.3086T>C
ENST00000370834.9:c.1061T>C	ENSP00000359871.5:p.Phe354Ser
ENST00000370841.8:c.962T>C	ENSP00000359878.4:p.Phe321Ser
ENST00000420607.6:c.974T>C	ENSP00000409612.2:p.Phe325Ser
ENST00000481374.1:n.235T>C
ENST00000525808.5:c.*548T>C	ENSP00000434823.1:n.*548T>C
ENST00000526129.5:c.*746T>C	ENSP00000434092.1:n.*746T>C
ENST00000526196.5:c.*730T>C	ENSP00000431953.1:n.*730T>C
ENST00000528016.1:c.160-8039T>C	ENSP00000434284.1:n.160-8039T>C
ENST00000529059.5:n.871T>C
ENST00000532207.5:n.692T>C
ENST00000534334.5:c.*703T>C	ENSP00000435584.1:n.*703T>C
ENST00000541113.5:c.854T>C	ENSP00000442324.1:p.Phe285Ser
NM_000016.5:c.962T>C	NP_000007.1:p.Phe321Ser
NM_001127328.2:c.974T>C	NP_001120800.1:p.Phe325Ser
NM_001286042.1:c.854T>C	NP_001272971.1:p.Phe285Ser
NM_001286043.1:c.1061T>C	NP_001272972.1:p.Phe354Ser
NM_001286044.1:c.395T>C	NP_001272973.1:p.Phe132Ser
NM_000016.6:c.962T>C MANE Select	NP_000007.1:p.Phe321Ser
NM_001127328.3:c.974T>C	NP_001120800.1:p.Phe325Ser
NM_001286042.2:c.854T>C	NP_001272971.1:p.Phe285Ser
NM_001286043.2:c.1061T>C	NP_001272972.1:p.Phe354Ser
NM_001286044.2:c.395T>C	NP_001272973.1:p.Phe132Ser