Canonical Allele Identifier: CA981154904
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071389174
gnomAD v3: 17-7224606-G-A
gnomAD v4: 17-7224606-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224606G>A , CM000679.2:g.7224606G>A GRCh38
NC_000017.10:g.7127925G>A , CM000679.1:g.7127925G>A GRCh37
NC_000017.9:g.7068649G>A NCBI36
NG_007975.1:g.9773G>A
NG_008391.2:g.445C>T
NG_033038.1:g.14939C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1679-36G>A MANE Select ENSP00000349297.5:n.1679-36G>A
ENST00000322910.9:c.*1634-36G>A ENSP00000325395.5:n.*1634-36G>A
ENST00000350303.9:c.1613-36G>A ENSP00000344152.5:n.1613-36G>A
ENST00000356839.9:c.1679-36G>A ENSP00000349297.5:n.1679-36G>A
ENST00000542255.6:c.536+54G>A
ENST00000543245.6:c.1748-36G>A ENSP00000438689.2:n.1748-36G>A
ENST00000578319.5:n.260-36G>A
ENST00000578711.1:n.1102G>A
ENST00000578809.5:n.251-36G>A
ENST00000579391.1:n.336G>A
ENST00000579425.5:n.795-36G>A
ENST00000579546.1:c.414-36G>A
ENST00000582450.1:n.240G>A
ENST00000583074.5:n.299+54G>A
ENST00000583848.5:c.64+54G>A ENSP00000466487.1:n.64+54G>A
ENST00000583850.5:n.450-36G>A
ENST00000583858.5:c.610-36G>A
ENST00000585203.6:n.870-36G>A
NM_000018.3:c.1679-36G>A NP_000009.1:n.1679-36G>A
NM_001033859.2:c.1613-36G>A NP_001029031.1:n.1613-36G>A
NM_001270447.1:c.1748-36G>A NP_001257376.1:n.1748-36G>A
NM_001270448.1:c.1451-36G>A NP_001257377.1:n.1451-36G>A
XM_006721516.2:c.1678+54G>A XP_006721579.2:n.1678+54G>A
XM_011523829.1:c.1576+54G>A XP_011522131.1:n.1576+54G>A
XM_011523830.1:c.1577-36G>A XP_011522132.1:n.1577-36G>A
XR_934021.1:n.1782-36G>A
XR_934022.1:n.1688-36G>A
XR_934023.1:n.1687+54G>A
XM_006721516.3:c.1678+54G>A XP_006721579.2:n.1678+54G>A
XM_011523829.2:c.1576+54G>A XP_011522131.1:n.1576+54G>A
XM_011523830.2:c.1577-36G>A XP_011522132.1:n.1577-36G>A
XM_024450741.1:c.1667-36G>A XP_024306509.1:n.1667-36G>A
XR_934021.2:n.1734-36G>A
XR_934022.2:n.1640-36G>A
XR_934023.2:n.1639+54G>A
NM_000018.4:c.1679-36G>A MANE Select NP_000009.1:n.1679-36G>A
NM_001033859.3:c.1613-36G>A NP_001029031.1:n.1613-36G>A
NM_001270447.2:c.1748-36G>A NP_001257376.1:n.1748-36G>A
NM_001270448.2:c.1451-36G>A NP_001257377.1:n.1451-36G>A