Canonical Allele Identifier: CA397726217

Gene: ACADVL

Linked Data

• dbSNP Id: rs759864218
• MyVariant Identifiers: chr17:g.7128387G>C (hg19) ; chr17:g.7225068G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225068G>C , CM000679.2:g.7225068G>C	GRCh38
NC_000017.10:g.7128387G>C , CM000679.1:g.7128387G>C	GRCh37
NC_000017.9:g.7069111G>C	NCBI36
NG_007975.1:g.10235G>C
NG_033038.1:g.14477C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1939G>C MANE Select	ENSP00000349297.5:p.Val647Leu
ENST00000322910.9:c.*1894G>C	ENSP00000325395.5:n.*1894G>C
ENST00000350303.9:c.1873G>C	ENSP00000344152.5:p.Val625Leu
ENST00000356839.9:c.1939G>C	ENSP00000349297.5:p.Val647Leu
ENST00000542255.6:c.818G>C
ENST00000543245.6:c.2008G>C	ENSP00000438689.2:p.Val670Leu
ENST00000578033.1:n.364G>C
ENST00000578319.5:n.520G>C
ENST00000578711.1:n.1564G>C
ENST00000578809.5:n.511G>C
ENST00000579425.5:n.1055G>C
ENST00000583848.5:c.305G>C	ENSP00000466487.1:n.305G>C
ENST00000583850.5:n.710G>C
ENST00000583858.5:c.870G>C
NM_000018.3:c.1939G>C	NP_000009.1:p.Val647Leu
NM_001033859.2:c.1873G>C	NP_001029031.1:p.Val625Leu
NM_001270447.1:c.2008G>C	NP_001257376.1:p.Val670Leu
NM_001270448.1:c.1711G>C	NP_001257377.1:p.Val571Leu
XM_006721516.2:c.1960G>C	XP_006721579.2:p.Val654Leu
XM_011523829.1:c.1858G>C	XP_011522131.1:p.Val620Leu
XM_011523830.1:c.1837G>C	XP_011522132.1:p.Val613Leu
XR_934021.1:n.2042G>C
XR_934022.1:n.1948G>C
XR_934023.1:n.1969G>C
XM_006721516.3:c.1960G>C	XP_006721579.2:p.Val654Leu
XM_011523829.2:c.1858G>C	XP_011522131.1:p.Val620Leu
XM_011523830.2:c.1837G>C	XP_011522132.1:p.Val613Leu
XM_024450741.1:c.1927G>C	XP_024306509.1:p.Val643Leu
XR_934021.2:n.1994G>C
XR_934022.2:n.1900G>C
XR_934023.2:n.1921G>C
NM_000018.4:c.1939G>C MANE Select	NP_000009.1:p.Val647Leu
NM_001033859.3:c.1873G>C	NP_001029031.1:p.Val625Leu
NM_001270447.2:c.2008G>C	NP_001257376.1:p.Val670Leu
NM_001270448.2:c.1711G>C	NP_001257377.1:p.Val571Leu