Canonical Allele Identifier: CA397726190

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128372G>C (hg19) ; chr17:g.7225053G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225053G>C , CM000679.2:g.7225053G>C	GRCh38
NC_000017.10:g.7128372G>C , CM000679.1:g.7128372G>C	GRCh37
NC_000017.9:g.7069096G>C	NCBI36
NG_007975.1:g.10220G>C
NG_033038.1:g.14492C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1924G>C MANE Select	ENSP00000349297.5:p.Val642Leu
ENST00000322910.9:c.*1879G>C	ENSP00000325395.5:n.*1879G>C
ENST00000350303.9:c.1858G>C	ENSP00000344152.5:p.Val620Leu
ENST00000356839.9:c.1924G>C	ENSP00000349297.5:p.Val642Leu
ENST00000542255.6:c.803G>C
ENST00000543245.6:c.1993G>C	ENSP00000438689.2:p.Val665Leu
ENST00000578033.1:n.349G>C
ENST00000578319.5:n.505G>C
ENST00000578711.1:n.1549G>C
ENST00000578809.5:n.496G>C
ENST00000579425.5:n.1040G>C
ENST00000583848.5:c.290G>C	ENSP00000466487.1:n.290G>C
ENST00000583850.5:n.695G>C
ENST00000583858.5:c.855G>C
NM_000018.3:c.1924G>C	NP_000009.1:p.Val642Leu
NM_001033859.2:c.1858G>C	NP_001029031.1:p.Val620Leu
NM_001270447.1:c.1993G>C	NP_001257376.1:p.Val665Leu
NM_001270448.1:c.1696G>C	NP_001257377.1:p.Val566Leu
XM_006721516.2:c.1945G>C	XP_006721579.2:p.Val649Leu
XM_011523829.1:c.1843G>C	XP_011522131.1:p.Val615Leu
XM_011523830.1:c.1822G>C	XP_011522132.1:p.Val608Leu
XR_934021.1:n.2027G>C
XR_934022.1:n.1933G>C
XR_934023.1:n.1954G>C
XM_006721516.3:c.1945G>C	XP_006721579.2:p.Val649Leu
XM_011523829.2:c.1843G>C	XP_011522131.1:p.Val615Leu
XM_011523830.2:c.1822G>C	XP_011522132.1:p.Val608Leu
XM_024450741.1:c.1912G>C	XP_024306509.1:p.Val638Leu
XR_934021.2:n.1979G>C
XR_934022.2:n.1885G>C
XR_934023.2:n.1906G>C
NM_000018.4:c.1924G>C MANE Select	NP_000009.1:p.Val642Leu
NM_001033859.3:c.1858G>C	NP_001029031.1:p.Val620Leu
NM_001270447.2:c.1993G>C	NP_001257376.1:p.Val665Leu
NM_001270448.2:c.1696G>C	NP_001257377.1:p.Val566Leu