Canonical Allele Identifier: CA8338316

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2415063
• ClinVar RCV Id: RCV003110482
• dbSNP Id: rs776166014
• ExAC: 17:7128406 T / C
• gnomAD v2: 17-7128406-T-C
• gnomAD v4: 17-7225087-T-C
• MyVariant Identifiers: chr17:g.7128406T>C (hg19) ; chr17:g.7225087T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225087T>C , CM000679.2:g.7225087T>C	GRCh38
NC_000017.10:g.7128406T>C , CM000679.1:g.7128406T>C	GRCh37
NC_000017.9:g.7069130T>C	NCBI36
NG_007975.1:g.10254T>C
NG_033038.1:g.14458A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1958T>C MANE Select	ENSP00000349297.5:p.Leu653Pro
ENST00000322910.9:c.*1913T>C	ENSP00000325395.5:n.*1913T>C
ENST00000350303.9:c.1892T>C	ENSP00000344152.5:p.Leu631Pro
ENST00000356839.9:c.1958T>C	ENSP00000349297.5:p.Leu653Pro
ENST00000542255.6:c.837T>C
ENST00000543245.6:c.2027T>C	ENSP00000438689.2:p.Leu676Pro
ENST00000578033.1:n.383T>C
ENST00000578319.5:n.539T>C
ENST00000578711.1:n.1583T>C
ENST00000578809.5:n.530T>C
ENST00000579425.5:n.1074T>C
ENST00000583848.5:c.324T>C	ENSP00000466487.1:n.324T>C
ENST00000583850.5:n.729T>C
ENST00000583858.5:c.889T>C
NM_000018.3:c.1958T>C	NP_000009.1:p.Leu653Pro
NM_001033859.2:c.1892T>C	NP_001029031.1:p.Leu631Pro
NM_001270447.1:c.2027T>C	NP_001257376.1:p.Leu676Pro
NM_001270448.1:c.1730T>C	NP_001257377.1:p.Leu577Pro
XM_006721516.2:c.1979T>C	XP_006721579.2:p.Leu660Pro
XM_011523829.1:c.1877T>C	XP_011522131.1:p.Leu626Pro
XM_011523830.1:c.1856T>C	XP_011522132.1:p.Leu619Pro
XR_934021.1:n.2061T>C
XR_934022.1:n.1967T>C
XR_934023.1:n.1988T>C
XM_006721516.3:c.1979T>C	XP_006721579.2:p.Leu660Pro
XM_011523829.2:c.1877T>C	XP_011522131.1:p.Leu626Pro
XM_011523830.2:c.1856T>C	XP_011522132.1:p.Leu619Pro
XM_024450741.1:c.1946T>C	XP_024306509.1:p.Leu649Pro
XR_934021.2:n.2013T>C
XR_934022.2:n.1919T>C
XR_934023.2:n.1940T>C
NM_000018.4:c.1958T>C MANE Select	NP_000009.1:p.Leu653Pro
NM_001033859.3:c.1892T>C	NP_001029031.1:p.Leu631Pro
NM_001270447.2:c.2027T>C	NP_001257376.1:p.Leu676Pro
NM_001270448.2:c.1730T>C	NP_001257377.1:p.Leu577Pro