Canonical Allele Identifier: CA397725931

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1808G>C MANE Select	ENSP00000349297.5:p.Cys603Ser
ENST00000322910.9:c.*1763G>C	ENSP00000325395.5:n.*1763G>C
ENST00000350303.9:c.1742G>C	ENSP00000344152.5:p.Cys581Ser
ENST00000356839.9:c.1808G>C	ENSP00000349297.5:p.Cys603Ser
ENST00000542255.6:c.687G>C
ENST00000543245.6:c.1877G>C	ENSP00000438689.2:p.Cys626Ser
ENST00000578033.1:n.233G>C
ENST00000578319.5:n.389G>C
ENST00000578711.1:n.1361G>C
ENST00000578809.5:n.380G>C
ENST00000579425.5:n.924G>C
ENST00000579546.1:c.543G>C
ENST00000583848.5:c.174G>C	ENSP00000466487.1:n.174G>C
ENST00000583850.5:n.579G>C
ENST00000583858.5:c.739G>C
NM_000018.3:c.1808G>C	NP_000009.1:p.Cys603Ser
NM_001033859.2:c.1742G>C	NP_001029031.1:p.Cys581Ser
NM_001270447.1:c.1877G>C	NP_001257376.1:p.Cys626Ser
NM_001270448.1:c.1580G>C	NP_001257377.1:p.Cys527Ser
XM_006721516.2:c.1829G>C	XP_006721579.2:p.Cys610Ser
XM_011523829.1:c.1727G>C	XP_011522131.1:p.Cys576Ser
XM_011523830.1:c.1706G>C	XP_011522132.1:p.Cys569Ser
XR_934021.1:n.1911G>C
XR_934022.1:n.1817G>C
XR_934023.1:n.1838G>C
XM_006721516.3:c.1829G>C	XP_006721579.2:p.Cys610Ser
XM_011523829.2:c.1727G>C	XP_011522131.1:p.Cys576Ser
XM_011523830.2:c.1706G>C	XP_011522132.1:p.Cys569Ser
XM_024450741.1:c.1796G>C	XP_024306509.1:p.Cys599Ser
XR_934021.2:n.1863G>C
XR_934022.2:n.1769G>C
XR_934023.2:n.1790G>C
NM_000018.4:c.1808G>C MANE Select	NP_000009.1:p.Cys603Ser
NM_001033859.3:c.1742G>C	NP_001029031.1:p.Cys581Ser
NM_001270447.2:c.1877G>C	NP_001257376.1:p.Cys626Ser
NM_001270448.2:c.1580G>C	NP_001257377.1:p.Cys527Ser