Canonical Allele Identifier: CA397725761
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1402989027
gnomAD v2: 17-7128017-G-A
gnomAD v4: 17-7224698-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224698G>A , CM000679.2:g.7224698G>A GRCh38
NC_000017.10:g.7128017G>A , CM000679.1:g.7128017G>A GRCh37
NC_000017.9:g.7068741G>A NCBI36
NG_007975.1:g.9865G>A
NG_008391.2:g.353C>T
NG_033038.1:g.14847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1735G>A MANE Select ENSP00000349297.5:p.Val579Met
ENST00000322910.9:c.*1690G>A ENSP00000325395.5:n.*1690G>A
ENST00000350303.9:c.1669G>A ENSP00000344152.5:p.Val557Met
ENST00000356839.9:c.1735G>A ENSP00000349297.5:p.Val579Met
ENST00000542255.6:c.537-17G>A
ENST00000543245.6:c.1804G>A ENSP00000438689.2:p.Val602Met
ENST00000578033.1:n.66G>A
ENST00000578319.5:n.316G>A
ENST00000578711.1:n.1194G>A
ENST00000578809.5:n.307G>A
ENST00000579425.5:n.851G>A
ENST00000579546.1:c.470G>A
ENST00000583074.5:n.300-17G>A
ENST00000583848.5:c.101G>A ENSP00000466487.1:p.Gly34Asp
ENST00000583850.5:n.506G>A
ENST00000583858.5:c.666G>A
ENST00000585203.6:n.926G>A
NM_000018.3:c.1735G>A NP_000009.1:p.Val579Met
NM_001033859.2:c.1669G>A NP_001029031.1:p.Val557Met
NM_001270447.1:c.1804G>A NP_001257376.1:p.Val602Met
NM_001270448.1:c.1507G>A NP_001257377.1:p.Val503Met
XM_006721516.2:c.1679-17G>A XP_006721579.2:n.1679-17G>A
XM_011523829.1:c.1577-17G>A XP_011522131.1:n.1577-17G>A
XM_011523830.1:c.1633G>A XP_011522132.1:p.Val545Met
XR_934021.1:n.1838G>A
XR_934022.1:n.1744G>A
XR_934023.1:n.1688-17G>A
XM_006721516.3:c.1679-17G>A XP_006721579.2:n.1679-17G>A
XM_011523829.2:c.1577-17G>A XP_011522131.1:n.1577-17G>A
XM_011523830.2:c.1633G>A XP_011522132.1:p.Val545Met
XM_024450741.1:c.1723G>A XP_024306509.1:p.Val575Met
XR_934021.2:n.1790G>A
XR_934022.2:n.1696G>A
XR_934023.2:n.1640-17G>A
NM_000018.4:c.1735G>A MANE Select NP_000009.1:p.Val579Met
NM_001033859.3:c.1669G>A NP_001029031.1:p.Val557Met
NM_001270447.2:c.1804G>A NP_001257376.1:p.Val602Met
NM_001270448.2:c.1507G>A NP_001257377.1:p.Val503Met