Canonical Allele Identifier: CA397726029

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128300A>C (hg19) ; chr17:g.7224981A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224981A>C , CM000679.2:g.7224981A>C	GRCh38
NC_000017.10:g.7128300A>C , CM000679.1:g.7128300A>C	GRCh37
NC_000017.9:g.7069024A>C	NCBI36
NG_007975.1:g.10148A>C
NG_008391.2:g.70T>G
NG_033038.1:g.14564T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1852A>C MANE Select	ENSP00000349297.5:p.Met618Leu
ENST00000322910.9:c.*1807A>C	ENSP00000325395.5:n.*1807A>C
ENST00000350303.9:c.1786A>C	ENSP00000344152.5:p.Met596Leu
ENST00000356839.9:c.1852A>C	ENSP00000349297.5:p.Met618Leu
ENST00000542255.6:c.731A>C
ENST00000543245.6:c.1921A>C	ENSP00000438689.2:p.Met641Leu
ENST00000578033.1:n.277A>C
ENST00000578319.5:n.433A>C
ENST00000578711.1:n.1477A>C
ENST00000578809.5:n.424A>C
ENST00000579425.5:n.968A>C
ENST00000583848.5:c.218A>C	ENSP00000466487.1:n.218A>C
ENST00000583850.5:n.623A>C
ENST00000583858.5:c.783A>C
NM_000018.3:c.1852A>C	NP_000009.1:p.Met618Leu
NM_001033859.2:c.1786A>C	NP_001029031.1:p.Met596Leu
NM_001270447.1:c.1921A>C	NP_001257376.1:p.Met641Leu
NM_001270448.1:c.1624A>C	NP_001257377.1:p.Met542Leu
XM_006721516.2:c.1873A>C	XP_006721579.2:p.Met625Leu
XM_011523829.1:c.1771A>C	XP_011522131.1:p.Met591Leu
XM_011523830.1:c.1750A>C	XP_011522132.1:p.Met584Leu
XR_934021.1:n.1955A>C
XR_934022.1:n.1861A>C
XR_934023.1:n.1882A>C
XM_006721516.3:c.1873A>C	XP_006721579.2:p.Met625Leu
XM_011523829.2:c.1771A>C	XP_011522131.1:p.Met591Leu
XM_011523830.2:c.1750A>C	XP_011522132.1:p.Met584Leu
XM_024450741.1:c.1840A>C	XP_024306509.1:p.Met614Leu
XR_934021.2:n.1907A>C
XR_934022.2:n.1813A>C
XR_934023.2:n.1834A>C
NM_000018.4:c.1852A>C MANE Select	NP_000009.1:p.Met618Leu
NM_001033859.3:c.1786A>C	NP_001029031.1:p.Met596Leu
NM_001270447.2:c.1921A>C	NP_001257376.1:p.Met641Leu
NM_001270448.2:c.1624A>C	NP_001257377.1:p.Met542Leu