Canonical Allele Identifier: CA397726036

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128302G>C (hg19) ; chr17:g.7224983G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224983G>C , CM000679.2:g.7224983G>C	GRCh38
NC_000017.10:g.7128302G>C , CM000679.1:g.7128302G>C	GRCh37
NC_000017.9:g.7069026G>C	NCBI36
NG_007975.1:g.10150G>C
NG_008391.2:g.68C>G
NG_033038.1:g.14562C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1854G>C MANE Select	ENSP00000349297.5:p.Met618Ile
ENST00000322910.9:c.*1809G>C	ENSP00000325395.5:n.*1809G>C
ENST00000350303.9:c.1788G>C	ENSP00000344152.5:p.Met596Ile
ENST00000356839.9:c.1854G>C	ENSP00000349297.5:p.Met618Ile
ENST00000542255.6:c.733G>C
ENST00000543245.6:c.1923G>C	ENSP00000438689.2:p.Met641Ile
ENST00000578033.1:n.279G>C
ENST00000578319.5:n.435G>C
ENST00000578711.1:n.1479G>C
ENST00000578809.5:n.426G>C
ENST00000579425.5:n.970G>C
ENST00000583848.5:c.220G>C	ENSP00000466487.1:n.220G>C
ENST00000583850.5:n.625G>C
ENST00000583858.5:c.785G>C
NM_000018.3:c.1854G>C	NP_000009.1:p.Met618Ile
NM_001033859.2:c.1788G>C	NP_001029031.1:p.Met596Ile
NM_001270447.1:c.1923G>C	NP_001257376.1:p.Met641Ile
NM_001270448.1:c.1626G>C	NP_001257377.1:p.Met542Ile
XM_006721516.2:c.1875G>C	XP_006721579.2:p.Met625Ile
XM_011523829.1:c.1773G>C	XP_011522131.1:p.Met591Ile
XM_011523830.1:c.1752G>C	XP_011522132.1:p.Met584Ile
XR_934021.1:n.1957G>C
XR_934022.1:n.1863G>C
XR_934023.1:n.1884G>C
XM_006721516.3:c.1875G>C	XP_006721579.2:p.Met625Ile
XM_011523829.2:c.1773G>C	XP_011522131.1:p.Met591Ile
XM_011523830.2:c.1752G>C	XP_011522132.1:p.Met584Ile
XM_024450741.1:c.1842G>C	XP_024306509.1:p.Met614Ile
XR_934021.2:n.1909G>C
XR_934022.2:n.1815G>C
XR_934023.2:n.1836G>C
NM_000018.4:c.1854G>C MANE Select	NP_000009.1:p.Met618Ile
NM_001033859.3:c.1788G>C	NP_001029031.1:p.Met596Ile
NM_001270447.2:c.1923G>C	NP_001257376.1:p.Met641Ile
NM_001270448.2:c.1626G>C	NP_001257377.1:p.Met542Ile