Canonical Allele Identifier: CA397726223

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128390G>C (hg19) ; chr17:g.7225071G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225071G>C , CM000679.2:g.7225071G>C	GRCh38
NC_000017.10:g.7128390G>C , CM000679.1:g.7128390G>C	GRCh37
NC_000017.9:g.7069114G>C	NCBI36
NG_007975.1:g.10238G>C
NG_033038.1:g.14474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1942G>C MANE Select	ENSP00000349297.5:p.Val648Leu
ENST00000322910.9:c.*1897G>C	ENSP00000325395.5:n.*1897G>C
ENST00000350303.9:c.1876G>C	ENSP00000344152.5:p.Val626Leu
ENST00000356839.9:c.1942G>C	ENSP00000349297.5:p.Val648Leu
ENST00000542255.6:c.821G>C
ENST00000543245.6:c.2011G>C	ENSP00000438689.2:p.Val671Leu
ENST00000578033.1:n.367G>C
ENST00000578319.5:n.523G>C
ENST00000578711.1:n.1567G>C
ENST00000578809.5:n.514G>C
ENST00000579425.5:n.1058G>C
ENST00000583848.5:c.308G>C	ENSP00000466487.1:n.308G>C
ENST00000583850.5:n.713G>C
ENST00000583858.5:c.873G>C
NM_000018.3:c.1942G>C	NP_000009.1:p.Val648Leu
NM_001033859.2:c.1876G>C	NP_001029031.1:p.Val626Leu
NM_001270447.1:c.2011G>C	NP_001257376.1:p.Val671Leu
NM_001270448.1:c.1714G>C	NP_001257377.1:p.Val572Leu
XM_006721516.2:c.1963G>C	XP_006721579.2:p.Val655Leu
XM_011523829.1:c.1861G>C	XP_011522131.1:p.Val621Leu
XM_011523830.1:c.1840G>C	XP_011522132.1:p.Val614Leu
XR_934021.1:n.2045G>C
XR_934022.1:n.1951G>C
XR_934023.1:n.1972G>C
XM_006721516.3:c.1963G>C	XP_006721579.2:p.Val655Leu
XM_011523829.2:c.1861G>C	XP_011522131.1:p.Val621Leu
XM_011523830.2:c.1840G>C	XP_011522132.1:p.Val614Leu
XM_024450741.1:c.1930G>C	XP_024306509.1:p.Val644Leu
XR_934021.2:n.1997G>C
XR_934022.2:n.1903G>C
XR_934023.2:n.1924G>C
NM_000018.4:c.1942G>C MANE Select	NP_000009.1:p.Val648Leu
NM_001033859.3:c.1876G>C	NP_001029031.1:p.Val626Leu
NM_001270447.2:c.2011G>C	NP_001257376.1:p.Val671Leu
NM_001270448.2:c.1714G>C	NP_001257377.1:p.Val572Leu