Canonical Allele Identifier: CA397725930

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128184G>A (hg19) ; chr17:g.7224865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224865G>A , CM000679.2:g.7224865G>A	GRCh38
NC_000017.10:g.7128184G>A , CM000679.1:g.7128184G>A	GRCh37
NC_000017.9:g.7068908G>A	NCBI36
NG_007975.1:g.10032G>A
NG_008391.2:g.186C>T
NG_033038.1:g.14680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1808G>A MANE Select	ENSP00000349297.5:p.Cys603Tyr
ENST00000322910.9:c.*1763G>A	ENSP00000325395.5:n.*1763G>A
ENST00000350303.9:c.1742G>A	ENSP00000344152.5:p.Cys581Tyr
ENST00000356839.9:c.1808G>A	ENSP00000349297.5:p.Cys603Tyr
ENST00000542255.6:c.687G>A
ENST00000543245.6:c.1877G>A	ENSP00000438689.2:p.Cys626Tyr
ENST00000578033.1:n.233G>A
ENST00000578319.5:n.389G>A
ENST00000578711.1:n.1361G>A
ENST00000578809.5:n.380G>A
ENST00000579425.5:n.924G>A
ENST00000579546.1:c.543G>A
ENST00000583848.5:c.174G>A	ENSP00000466487.1:n.174G>A
ENST00000583850.5:n.579G>A
ENST00000583858.5:c.739G>A
NM_000018.3:c.1808G>A	NP_000009.1:p.Cys603Tyr
NM_001033859.2:c.1742G>A	NP_001029031.1:p.Cys581Tyr
NM_001270447.1:c.1877G>A	NP_001257376.1:p.Cys626Tyr
NM_001270448.1:c.1580G>A	NP_001257377.1:p.Cys527Tyr
XM_006721516.2:c.1829G>A	XP_006721579.2:p.Cys610Tyr
XM_011523829.1:c.1727G>A	XP_011522131.1:p.Cys576Tyr
XM_011523830.1:c.1706G>A	XP_011522132.1:p.Cys569Tyr
XR_934021.1:n.1911G>A
XR_934022.1:n.1817G>A
XR_934023.1:n.1838G>A
XM_006721516.3:c.1829G>A	XP_006721579.2:p.Cys610Tyr
XM_011523829.2:c.1727G>A	XP_011522131.1:p.Cys576Tyr
XM_011523830.2:c.1706G>A	XP_011522132.1:p.Cys569Tyr
XM_024450741.1:c.1796G>A	XP_024306509.1:p.Cys599Tyr
XR_934021.2:n.1863G>A
XR_934022.2:n.1769G>A
XR_934023.2:n.1790G>A
NM_000018.4:c.1808G>A MANE Select	NP_000009.1:p.Cys603Tyr
NM_001033859.3:c.1742G>A	NP_001029031.1:p.Cys581Tyr
NM_001270447.2:c.1877G>A	NP_001257376.1:p.Cys626Tyr
NM_001270448.2:c.1580G>A	NP_001257377.1:p.Cys527Tyr