Canonical Allele Identifier: CA397725956

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224875-G-C
• MyVariant Identifiers: chr17:g.7128194G>C (hg19) ; chr17:g.7224875G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224875G>C , CM000679.2:g.7224875G>C	GRCh38
NC_000017.10:g.7128194G>C , CM000679.1:g.7128194G>C	GRCh37
NC_000017.9:g.7068918G>C	NCBI36
NG_007975.1:g.10042G>C
NG_008391.2:g.176C>G
NG_033038.1:g.14670C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1818G>C MANE Select	ENSP00000349297.5:p.Trp606Cys
ENST00000322910.9:c.*1773G>C	ENSP00000325395.5:n.*1773G>C
ENST00000350303.9:c.1752G>C	ENSP00000344152.5:p.Trp584Cys
ENST00000356839.9:c.1818G>C	ENSP00000349297.5:p.Trp606Cys
ENST00000542255.6:c.697G>C
ENST00000543245.6:c.1887G>C	ENSP00000438689.2:p.Trp629Cys
ENST00000578033.1:n.243G>C
ENST00000578319.5:n.399G>C
ENST00000578711.1:n.1371G>C
ENST00000578809.5:n.390G>C
ENST00000579425.5:n.934G>C
ENST00000579546.1:c.553G>C
ENST00000583848.5:c.184G>C	ENSP00000466487.1:n.184G>C
ENST00000583850.5:n.589G>C
ENST00000583858.5:c.749G>C
NM_000018.3:c.1818G>C	NP_000009.1:p.Trp606Cys
NM_001033859.2:c.1752G>C	NP_001029031.1:p.Trp584Cys
NM_001270447.1:c.1887G>C	NP_001257376.1:p.Trp629Cys
NM_001270448.1:c.1590G>C	NP_001257377.1:p.Trp530Cys
XM_006721516.2:c.1839G>C	XP_006721579.2:p.Trp613Cys
XM_011523829.1:c.1737G>C	XP_011522131.1:p.Trp579Cys
XM_011523830.1:c.1716G>C	XP_011522132.1:p.Trp572Cys
XR_934021.1:n.1921G>C
XR_934022.1:n.1827G>C
XR_934023.1:n.1848G>C
XM_006721516.3:c.1839G>C	XP_006721579.2:p.Trp613Cys
XM_011523829.2:c.1737G>C	XP_011522131.1:p.Trp579Cys
XM_011523830.2:c.1716G>C	XP_011522132.1:p.Trp572Cys
XM_024450741.1:c.1806G>C	XP_024306509.1:p.Trp602Cys
XR_934021.2:n.1873G>C
XR_934022.2:n.1779G>C
XR_934023.2:n.1800G>C
NM_000018.4:c.1818G>C MANE Select	NP_000009.1:p.Trp606Cys
NM_001033859.3:c.1752G>C	NP_001029031.1:p.Trp584Cys
NM_001270447.2:c.1887G>C	NP_001257376.1:p.Trp629Cys
NM_001270448.2:c.1590G>C	NP_001257377.1:p.Trp530Cys