Canonical Allele Identifier: CA397726171

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128364A>C (hg19) ; chr17:g.7225045A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225045A>C , CM000679.2:g.7225045A>C	GRCh38
NC_000017.10:g.7128364A>C , CM000679.1:g.7128364A>C	GRCh37
NC_000017.9:g.7069088A>C	NCBI36
NG_007975.1:g.10212A>C
NG_008391.2:g.6T>G
NG_033038.1:g.14500T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1916A>C MANE Select	ENSP00000349297.5:p.Lys639Thr
ENST00000322910.9:c.*1871A>C	ENSP00000325395.5:n.*1871A>C
ENST00000350303.9:c.1850A>C	ENSP00000344152.5:p.Lys617Thr
ENST00000356839.9:c.1916A>C	ENSP00000349297.5:p.Lys639Thr
ENST00000542255.6:c.795A>C
ENST00000543245.6:c.1985A>C	ENSP00000438689.2:p.Lys662Thr
ENST00000578033.1:n.341A>C
ENST00000578319.5:n.497A>C
ENST00000578711.1:n.1541A>C
ENST00000578809.5:n.488A>C
ENST00000579425.5:n.1032A>C
ENST00000583848.5:c.282A>C	ENSP00000466487.1:n.282A>C
ENST00000583850.5:n.687A>C
ENST00000583858.5:c.847A>C
NM_000018.3:c.1916A>C	NP_000009.1:p.Lys639Thr
NM_001033859.2:c.1850A>C	NP_001029031.1:p.Lys617Thr
NM_001270447.1:c.1985A>C	NP_001257376.1:p.Lys662Thr
NM_001270448.1:c.1688A>C	NP_001257377.1:p.Lys563Thr
XM_006721516.2:c.1937A>C	XP_006721579.2:p.Lys646Thr
XM_011523829.1:c.1835A>C	XP_011522131.1:p.Lys612Thr
XM_011523830.1:c.1814A>C	XP_011522132.1:p.Lys605Thr
XR_934021.1:n.2019A>C
XR_934022.1:n.1925A>C
XR_934023.1:n.1946A>C
XM_006721516.3:c.1937A>C	XP_006721579.2:p.Lys646Thr
XM_011523829.2:c.1835A>C	XP_011522131.1:p.Lys612Thr
XM_011523830.2:c.1814A>C	XP_011522132.1:p.Lys605Thr
XM_024450741.1:c.1904A>C	XP_024306509.1:p.Lys635Thr
XR_934021.2:n.1971A>C
XR_934022.2:n.1877A>C
XR_934023.2:n.1898A>C
NM_000018.4:c.1916A>C MANE Select	NP_000009.1:p.Lys639Thr
NM_001033859.3:c.1850A>C	NP_001029031.1:p.Lys617Thr
NM_001270447.2:c.1985A>C	NP_001257376.1:p.Lys662Thr
NM_001270448.2:c.1688A>C	NP_001257377.1:p.Lys563Thr