Canonical Allele Identifier: CA312281
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 21019
dbSNP Id: rs113994171

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224636G>A , CM000679.2:g.7224636G>A GRCh38
NC_000017.10:g.7127955G>A , CM000679.1:g.7127955G>A GRCh37
NC_000017.9:g.7068679G>A NCBI36
NG_007975.1:g.9803G>A
NG_008391.2:g.415C>T
NG_033038.1:g.14909C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1679-6G>A MANE Select ENSP00000349297.5:p.=
ENST00000322910.9:c.*1634-6G>A ENSP00000325395.5:p.=
ENST00000350303.9:c.1613-6G>A ENSP00000344152.5:p.=
ENST00000356839.9:c.1679-6G>A ENSP00000349297.5:p.=
ENST00000542255.6:n.537-79G>A
ENST00000543245.6:c.1748-6G>A ENSP00000438689.2:p.=
ENST00000578033.1:n.4G>A
ENST00000578319.5:n.260-6G>A
ENST00000578711.1:n.1132G>A
ENST00000578809.5:n.251-6G>A
ENST00000579425.5:n.795-6G>A
ENST00000579546.1:n.414-6G>A
ENST00000582450.1:n.270G>A
ENST00000583074.5:n.300-79G>A
ENST00000583848.5:n.65-26G>A ENSP00000466487.1:p.=
ENST00000583850.5:n.450-6G>A
ENST00000583858.5:n.610-6G>A
ENST00000585203.6:n.870-6G>A
NM_000018.3:c.1679-6G>A NP_000009.1:p.=
NM_001033859.2:c.1613-6G>A NP_001029031.1:p.=
NM_001270447.1:c.1748-6G>A NP_001257376.1:p.=
NM_001270448.1:c.1451-6G>A NP_001257377.1:p.=
XM_006721516.2:c.1679-79G>A XP_006721579.2:p.=
XM_011523829.1:c.1577-79G>A XP_011522131.1:p.=
XM_011523830.1:c.1577-6G>A XP_011522132.1:p.=
XR_934021.1:n.1782-6G>A
XR_934022.1:n.1688-6G>A
XR_934023.1:n.1688-79G>A
XM_006721516.3:c.1679-79G>A XP_006721579.2:p.=
XM_011523829.2:c.1577-79G>A XP_011522131.1:p.=
XM_011523830.2:c.1577-6G>A XP_011522132.1:p.=
XM_024450741.1:c.1667-6G>A XP_024306509.1:p.=
XR_934021.2:n.1734-6G>A
XR_934022.2:n.1640-6G>A
XR_934023.2:n.1640-79G>A
NM_000018.4:c.1679-6G>A MANE Select NP_000009.1:p.=
NM_001033859.3:c.1613-6G>A NP_001029031.1:p.=
NM_001270447.2:c.1748-6G>A NP_001257376.1:p.=
NM_001270448.2:c.1451-6G>A NP_001257377.1:p.=