Canonical Allele Identifier: CA397725440

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127698C>G (hg19) ; chr17:g.7224379C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224379C>G , CM000679.2:g.7224379C>G	GRCh38
NC_000017.10:g.7127698C>G , CM000679.1:g.7127698C>G	GRCh37
NC_000017.9:g.7068422C>G	NCBI36
NG_007975.1:g.9546C>G
NG_008391.2:g.672G>C
NG_033038.1:g.15166G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1591C>G MANE Select	ENSP00000349297.5:p.Arg531Gly
ENST00000322910.9:c.*1546C>G	ENSP00000325395.5:n.*1546C>G
ENST00000350303.9:c.1525C>G	ENSP00000344152.5:p.Arg509Gly
ENST00000356839.9:c.1591C>G	ENSP00000349297.5:p.Arg531Gly
ENST00000542255.6:c.449C>G
ENST00000543245.6:c.1660C>G	ENSP00000438689.2:p.Arg554Gly
ENST00000578319.5:n.86C>G
ENST00000578711.1:n.875C>G
ENST00000578809.5:n.163C>G
ENST00000579391.1:n.199C>G
ENST00000579425.5:n.707C>G
ENST00000579546.1:c.330C>G
ENST00000579894.5:n.378C>G
ENST00000582450.1:n.99C>G
ENST00000583074.5:n.212C>G
ENST00000583850.5:n.366C>G
ENST00000583858.5:c.522C>G
ENST00000585203.6:n.782C>G
NM_000018.3:c.1591C>G	NP_000009.1:p.Arg531Gly
NM_001033859.2:c.1525C>G	NP_001029031.1:p.Arg509Gly
NM_001270447.1:c.1660C>G	NP_001257376.1:p.Arg554Gly
NM_001270448.1:c.1363C>G	NP_001257377.1:p.Arg455Gly
XM_006721516.2:c.1591C>G	XP_006721579.2:p.Arg531Gly
XM_011523829.1:c.1493C>G	XP_011522131.1:p.Ser498Trp
XM_011523830.1:c.1493C>G	XP_011522132.1:p.Ser498Trp
XR_934021.1:n.1698C>G
XR_934022.1:n.1600C>G
XR_934023.1:n.1600C>G
XM_006721516.3:c.1591C>G	XP_006721579.2:p.Arg531Gly
XM_011523829.2:c.1493C>G	XP_011522131.1:p.Ser498Trp
XM_011523830.2:c.1493C>G	XP_011522132.1:p.Ser498Trp
XM_024450741.1:c.1493C>G	XP_024306509.1:p.Ser498Trp
XR_934021.2:n.1650C>G
XR_934022.2:n.1552C>G
XR_934023.2:n.1552C>G
NM_000018.4:c.1591C>G MANE Select	NP_000009.1:p.Arg531Gly
NM_001033859.3:c.1525C>G	NP_001029031.1:p.Arg509Gly
NM_001270447.2:c.1660C>G	NP_001257376.1:p.Arg554Gly
NM_001270448.2:c.1363C>G	NP_001257377.1:p.Arg455Gly