Canonical Allele Identifier: CA397726066

Gene: ACADVL

Linked Data

• COSMIC: COSM4830222
• MyVariant Identifiers: chr17:g.7128316C>G (hg19) ; chr17:g.7224997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224997C>G , CM000679.2:g.7224997C>G	GRCh38
NC_000017.10:g.7128316C>G , CM000679.1:g.7128316C>G	GRCh37
NC_000017.9:g.7069040C>G	NCBI36
NG_007975.1:g.10164C>G
NG_008391.2:g.54G>C
NG_033038.1:g.14548G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1868C>G MANE Select	ENSP00000349297.5:p.Ser623Cys
ENST00000322910.9:c.*1823C>G	ENSP00000325395.5:n.*1823C>G
ENST00000350303.9:c.1802C>G	ENSP00000344152.5:p.Ser601Cys
ENST00000356839.9:c.1868C>G	ENSP00000349297.5:p.Ser623Cys
ENST00000542255.6:c.747C>G
ENST00000543245.6:c.1937C>G	ENSP00000438689.2:p.Ser646Cys
ENST00000578033.1:n.293C>G
ENST00000578319.5:n.449C>G
ENST00000578711.1:n.1493C>G
ENST00000578809.5:n.440C>G
ENST00000579425.5:n.984C>G
ENST00000583848.5:c.234C>G	ENSP00000466487.1:n.234C>G
ENST00000583850.5:n.639C>G
ENST00000583858.5:c.799C>G
NM_000018.3:c.1868C>G	NP_000009.1:p.Ser623Cys
NM_001033859.2:c.1802C>G	NP_001029031.1:p.Ser601Cys
NM_001270447.1:c.1937C>G	NP_001257376.1:p.Ser646Cys
NM_001270448.1:c.1640C>G	NP_001257377.1:p.Ser547Cys
XM_006721516.2:c.1889C>G	XP_006721579.2:p.Ser630Cys
XM_011523829.1:c.1787C>G	XP_011522131.1:p.Ser596Cys
XM_011523830.1:c.1766C>G	XP_011522132.1:p.Ser589Cys
XR_934021.1:n.1971C>G
XR_934022.1:n.1877C>G
XR_934023.1:n.1898C>G
XM_006721516.3:c.1889C>G	XP_006721579.2:p.Ser630Cys
XM_011523829.2:c.1787C>G	XP_011522131.1:p.Ser596Cys
XM_011523830.2:c.1766C>G	XP_011522132.1:p.Ser589Cys
XM_024450741.1:c.1856C>G	XP_024306509.1:p.Ser619Cys
XR_934021.2:n.1923C>G
XR_934022.2:n.1829C>G
XR_934023.2:n.1850C>G
NM_000018.4:c.1868C>G MANE Select	NP_000009.1:p.Ser623Cys
NM_001033859.3:c.1802C>G	NP_001029031.1:p.Ser601Cys
NM_001270447.2:c.1937C>G	NP_001257376.1:p.Ser646Cys
NM_001270448.2:c.1640C>G	NP_001257377.1:p.Ser547Cys