Canonical Allele Identifier: CA8338242

Gene: ACADVL

Linked Data

• dbSNP Id: rs779535755
• ExAC: 17:7128064 G / C
• gnomAD v2: 17-7128064-G-C
• gnomAD v4: 17-7224745-G-C
• MyVariant Identifiers: chr17:g.7128064G>C (hg19) ; chr17:g.7224745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224745G>C , CM000679.2:g.7224745G>C	GRCh38
NC_000017.10:g.7128064G>C , CM000679.1:g.7128064G>C	GRCh37
NC_000017.9:g.7068788G>C	NCBI36
NG_007975.1:g.9912G>C
NG_008391.2:g.306C>G
NG_033038.1:g.14800C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1751+31G>C MANE Select	ENSP00000349297.5:n.1751+31G>C
ENST00000322910.9:c.*1706+31G>C	ENSP00000325395.5:n.*1706+31G>C
ENST00000350303.9:c.1685+31G>C	ENSP00000344152.5:n.1685+31G>C
ENST00000356839.9:c.1751+31G>C	ENSP00000349297.5:n.1751+31G>C
ENST00000542255.6:c.567G>C
ENST00000543245.6:c.1820+31G>C	ENSP00000438689.2:n.1820+31G>C
ENST00000578033.1:n.113G>C
ENST00000578319.5:n.332+31G>C
ENST00000578711.1:n.1241G>C
ENST00000578809.5:n.323+31G>C
ENST00000579425.5:n.867+31G>C
ENST00000579546.1:c.486+31G>C
ENST00000583074.5:n.330G>C
ENST00000583848.5:c.117+31G>C	ENSP00000466487.1:n.117+31G>C
ENST00000583850.5:n.522+31G>C
ENST00000583858.5:c.682+31G>C
ENST00000585203.6:n.942+31G>C
NM_000018.3:c.1751+31G>C	NP_000009.1:n.1751+31G>C
NM_001033859.2:c.1685+31G>C	NP_001029031.1:n.1685+31G>C
NM_001270447.1:c.1820+31G>C	NP_001257376.1:n.1820+31G>C
NM_001270448.1:c.1523+31G>C	NP_001257377.1:n.1523+31G>C
XM_006721516.2:c.1709G>C	XP_006721579.2:p.Arg570Pro
XM_011523829.1:c.1607G>C	XP_011522131.1:p.Arg536Pro
XM_011523830.1:c.1649+31G>C	XP_011522132.1:n.1649+31G>C
XR_934021.1:n.1854+31G>C
XR_934022.1:n.1760+31G>C
XR_934023.1:n.1718G>C
XM_006721516.3:c.1709G>C	XP_006721579.2:p.Arg570Pro
XM_011523829.2:c.1607G>C	XP_011522131.1:p.Arg536Pro
XM_011523830.2:c.1649+31G>C	XP_011522132.1:n.1649+31G>C
XM_024450741.1:c.1739+31G>C	XP_024306509.1:n.1739+31G>C
XR_934021.2:n.1806+31G>C
XR_934022.2:n.1712+31G>C
XR_934023.2:n.1670G>C
NM_000018.4:c.1751+31G>C MANE Select	NP_000009.1:n.1751+31G>C
NM_001033859.3:c.1685+31G>C	NP_001029031.1:n.1685+31G>C
NM_001270447.2:c.1820+31G>C	NP_001257376.1:n.1820+31G>C
NM_001270448.2:c.1523+31G>C	NP_001257377.1:n.1523+31G>C