Canonical Allele Identifier: CA397726168

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128361C>G (hg19) ; chr17:g.7225042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225042C>G , CM000679.2:g.7225042C>G	GRCh38
NC_000017.10:g.7128361C>G , CM000679.1:g.7128361C>G	GRCh37
NC_000017.9:g.7069085C>G	NCBI36
NG_007975.1:g.10209C>G
NG_008391.2:g.9G>C
NG_033038.1:g.14503G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1913C>G MANE Select	ENSP00000349297.5:p.Ser638Cys
ENST00000322910.9:c.*1868C>G	ENSP00000325395.5:n.*1868C>G
ENST00000350303.9:c.1847C>G	ENSP00000344152.5:p.Ser616Cys
ENST00000356839.9:c.1913C>G	ENSP00000349297.5:p.Ser638Cys
ENST00000542255.6:c.792C>G
ENST00000543245.6:c.1982C>G	ENSP00000438689.2:p.Ser661Cys
ENST00000578033.1:n.338C>G
ENST00000578319.5:n.494C>G
ENST00000578711.1:n.1538C>G
ENST00000578809.5:n.485C>G
ENST00000579425.5:n.1029C>G
ENST00000583848.5:c.279C>G	ENSP00000466487.1:n.279C>G
ENST00000583850.5:n.684C>G
ENST00000583858.5:c.844C>G
NM_000018.3:c.1913C>G	NP_000009.1:p.Ser638Cys
NM_001033859.2:c.1847C>G	NP_001029031.1:p.Ser616Cys
NM_001270447.1:c.1982C>G	NP_001257376.1:p.Ser661Cys
NM_001270448.1:c.1685C>G	NP_001257377.1:p.Ser562Cys
XM_006721516.2:c.1934C>G	XP_006721579.2:p.Ser645Cys
XM_011523829.1:c.1832C>G	XP_011522131.1:p.Ser611Cys
XM_011523830.1:c.1811C>G	XP_011522132.1:p.Ser604Cys
XR_934021.1:n.2016C>G
XR_934022.1:n.1922C>G
XR_934023.1:n.1943C>G
XM_006721516.3:c.1934C>G	XP_006721579.2:p.Ser645Cys
XM_011523829.2:c.1832C>G	XP_011522131.1:p.Ser611Cys
XM_011523830.2:c.1811C>G	XP_011522132.1:p.Ser604Cys
XM_024450741.1:c.1901C>G	XP_024306509.1:p.Ser634Cys
XR_934021.2:n.1968C>G
XR_934022.2:n.1874C>G
XR_934023.2:n.1895C>G
NM_000018.4:c.1913C>G MANE Select	NP_000009.1:p.Ser638Cys
NM_001033859.3:c.1847C>G	NP_001029031.1:p.Ser616Cys
NM_001270447.2:c.1982C>G	NP_001257376.1:p.Ser661Cys
NM_001270448.2:c.1685C>G	NP_001257377.1:p.Ser562Cys