Canonical Allele Identifier: CA397725613

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127863G>C (hg19) ; chr17:g.7224544G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224544G>C , CM000679.2:g.7224544G>C	GRCh38
NC_000017.10:g.7127863G>C , CM000679.1:g.7127863G>C	GRCh37
NC_000017.9:g.7068587G>C	NCBI36
NG_007975.1:g.9711G>C
NG_008391.2:g.507C>G
NG_033038.1:g.15001C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1670G>C MANE Select	ENSP00000349297.5:p.Gly557Ala
ENST00000322910.9:c.*1625G>C	ENSP00000325395.5:n.*1625G>C
ENST00000350303.9:c.1604G>C	ENSP00000344152.5:p.Gly535Ala
ENST00000356839.9:c.1670G>C	ENSP00000349297.5:p.Gly557Ala
ENST00000542255.6:c.528G>C
ENST00000543245.6:c.1739G>C	ENSP00000438689.2:p.Gly580Ala
ENST00000578319.5:n.251G>C
ENST00000578711.1:n.1040G>C
ENST00000578809.5:n.242G>C
ENST00000579391.1:n.274G>C
ENST00000579425.5:n.786G>C
ENST00000579546.1:c.405G>C
ENST00000582450.1:n.178G>C
ENST00000583074.5:n.291G>C
ENST00000583848.5:c.56G>C	ENSP00000466487.1:p.Gly19Ala
ENST00000583850.5:n.441G>C
ENST00000583858.5:c.601G>C
ENST00000585203.6:n.861G>C
NM_000018.3:c.1670G>C	NP_000009.1:p.Gly557Ala
NM_001033859.2:c.1604G>C	NP_001029031.1:p.Gly535Ala
NM_001270447.1:c.1739G>C	NP_001257376.1:p.Gly580Ala
NM_001270448.1:c.1442G>C	NP_001257377.1:p.Gly481Ala
XM_006721516.2:c.1670G>C	XP_006721579.2:p.Gly557Ala
XM_011523829.1:c.1568G>C	XP_011522131.1:p.Gly523Ala
XM_011523830.1:c.1568G>C	XP_011522132.1:p.Gly523Ala
XR_934021.1:n.1773G>C
XR_934022.1:n.1679G>C
XR_934023.1:n.1679G>C
XM_006721516.3:c.1670G>C	XP_006721579.2:p.Gly557Ala
XM_011523829.2:c.1568G>C	XP_011522131.1:p.Gly523Ala
XM_011523830.2:c.1568G>C	XP_011522132.1:p.Gly523Ala
XM_024450741.1:c.1658G>C	XP_024306509.1:p.Gly553Ala
XR_934021.2:n.1725G>C
XR_934022.2:n.1631G>C
XR_934023.2:n.1631G>C
NM_000018.4:c.1670G>C MANE Select	NP_000009.1:p.Gly557Ala
NM_001033859.3:c.1604G>C	NP_001029031.1:p.Gly535Ala
NM_001270447.2:c.1739G>C	NP_001257376.1:p.Gly580Ala
NM_001270448.2:c.1442G>C	NP_001257377.1:p.Gly481Ala