Canonical Allele Identifier: CA397725611

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127862G>C (hg19) ; chr17:g.7224543G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224543G>C , CM000679.2:g.7224543G>C	GRCh38
NC_000017.10:g.7127862G>C , CM000679.1:g.7127862G>C	GRCh37
NC_000017.9:g.7068586G>C	NCBI36
NG_007975.1:g.9710G>C
NG_008391.2:g.508C>G
NG_033038.1:g.15002C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1669G>C MANE Select	ENSP00000349297.5:p.Gly557Arg
ENST00000322910.9:c.*1624G>C	ENSP00000325395.5:n.*1624G>C
ENST00000350303.9:c.1603G>C	ENSP00000344152.5:p.Gly535Arg
ENST00000356839.9:c.1669G>C	ENSP00000349297.5:p.Gly557Arg
ENST00000542255.6:c.527G>C
ENST00000543245.6:c.1738G>C	ENSP00000438689.2:p.Gly580Arg
ENST00000578319.5:n.250G>C
ENST00000578711.1:n.1039G>C
ENST00000578809.5:n.241G>C
ENST00000579391.1:n.273G>C
ENST00000579425.5:n.785G>C
ENST00000579546.1:c.404G>C
ENST00000582450.1:n.177G>C
ENST00000583074.5:n.290G>C
ENST00000583848.5:c.55G>C	ENSP00000466487.1:p.Gly19Arg
ENST00000583850.5:n.440G>C
ENST00000583858.5:c.600G>C
ENST00000585203.6:n.860G>C
NM_000018.3:c.1669G>C	NP_000009.1:p.Gly557Arg
NM_001033859.2:c.1603G>C	NP_001029031.1:p.Gly535Arg
NM_001270447.1:c.1738G>C	NP_001257376.1:p.Gly580Arg
NM_001270448.1:c.1441G>C	NP_001257377.1:p.Gly481Arg
XM_006721516.2:c.1669G>C	XP_006721579.2:p.Gly557Arg
XM_011523829.1:c.1567G>C	XP_011522131.1:p.Gly523Arg
XM_011523830.1:c.1567G>C	XP_011522132.1:p.Gly523Arg
XR_934021.1:n.1772G>C
XR_934022.1:n.1678G>C
XR_934023.1:n.1678G>C
XM_006721516.3:c.1669G>C	XP_006721579.2:p.Gly557Arg
XM_011523829.2:c.1567G>C	XP_011522131.1:p.Gly523Arg
XM_011523830.2:c.1567G>C	XP_011522132.1:p.Gly523Arg
XM_024450741.1:c.1657G>C	XP_024306509.1:p.Gly553Arg
XR_934021.2:n.1724G>C
XR_934022.2:n.1630G>C
XR_934023.2:n.1630G>C
NM_000018.4:c.1669G>C MANE Select	NP_000009.1:p.Gly557Arg
NM_001033859.3:c.1603G>C	NP_001029031.1:p.Gly535Arg
NM_001270447.2:c.1738G>C	NP_001257376.1:p.Gly580Arg
NM_001270448.2:c.1441G>C	NP_001257377.1:p.Gly481Arg