Canonical Allele Identifier: CA397726086

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128327C>A (hg19) ; chr17:g.7225008C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225008C>A , CM000679.2:g.7225008C>A	GRCh38
NC_000017.10:g.7128327C>A , CM000679.1:g.7128327C>A	GRCh37
NC_000017.9:g.7069051C>A	NCBI36
NG_007975.1:g.10175C>A
NG_008391.2:g.43G>T
NG_033038.1:g.14537G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1879C>A MANE Select	ENSP00000349297.5:p.Gln627Lys
ENST00000322910.9:c.*1834C>A	ENSP00000325395.5:n.*1834C>A
ENST00000350303.9:c.1813C>A	ENSP00000344152.5:p.Gln605Lys
ENST00000356839.9:c.1879C>A	ENSP00000349297.5:p.Gln627Lys
ENST00000542255.6:c.758C>A
ENST00000543245.6:c.1948C>A	ENSP00000438689.2:p.Gln650Lys
ENST00000578033.1:n.304C>A
ENST00000578319.5:n.460C>A
ENST00000578711.1:n.1504C>A
ENST00000578809.5:n.451C>A
ENST00000579425.5:n.995C>A
ENST00000583848.5:c.245C>A	ENSP00000466487.1:n.245C>A
ENST00000583850.5:n.650C>A
ENST00000583858.5:c.810C>A
NM_000018.3:c.1879C>A	NP_000009.1:p.Gln627Lys
NM_001033859.2:c.1813C>A	NP_001029031.1:p.Gln605Lys
NM_001270447.1:c.1948C>A	NP_001257376.1:p.Gln650Lys
NM_001270448.1:c.1651C>A	NP_001257377.1:p.Gln551Lys
XM_006721516.2:c.1900C>A	XP_006721579.2:p.Gln634Lys
XM_011523829.1:c.1798C>A	XP_011522131.1:p.Gln600Lys
XM_011523830.1:c.1777C>A	XP_011522132.1:p.Gln593Lys
XR_934021.1:n.1982C>A
XR_934022.1:n.1888C>A
XR_934023.1:n.1909C>A
XM_006721516.3:c.1900C>A	XP_006721579.2:p.Gln634Lys
XM_011523829.2:c.1798C>A	XP_011522131.1:p.Gln600Lys
XM_011523830.2:c.1777C>A	XP_011522132.1:p.Gln593Lys
XM_024450741.1:c.1867C>A	XP_024306509.1:p.Gln623Lys
XR_934021.2:n.1934C>A
XR_934022.2:n.1840C>A
XR_934023.2:n.1861C>A
NM_000018.4:c.1879C>A MANE Select	NP_000009.1:p.Gln627Lys
NM_001033859.3:c.1813C>A	NP_001029031.1:p.Gln605Lys
NM_001270447.2:c.1948C>A	NP_001257376.1:p.Gln650Lys
NM_001270448.2:c.1651C>A	NP_001257377.1:p.Gln551Lys