Canonical Allele Identifier: CA397725717
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224677-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224677G>T , CM000679.2:g.7224677G>T GRCh38
NC_000017.10:g.7127996G>T , CM000679.1:g.7127996G>T GRCh37
NC_000017.9:g.7068720G>T NCBI36
NG_007975.1:g.9844G>T
NG_008391.2:g.374C>A
NG_033038.1:g.14868C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1714G>T MANE Select ENSP00000349297.5:p.Ala572Ser
ENST00000322910.9:c.*1669G>T ENSP00000325395.5:n.*1669G>T
ENST00000350303.9:c.1648G>T ENSP00000344152.5:p.Ala550Ser
ENST00000356839.9:c.1714G>T ENSP00000349297.5:p.Ala572Ser
ENST00000542255.6:c.537-38G>T
ENST00000543245.6:c.1783G>T ENSP00000438689.2:p.Ala595Ser
ENST00000578033.1:n.45G>T
ENST00000578319.5:n.295G>T
ENST00000578711.1:n.1173G>T
ENST00000578809.5:n.286G>T
ENST00000579425.5:n.830G>T
ENST00000579546.1:c.449G>T
ENST00000583074.5:n.300-38G>T
ENST00000583848.5:c.80G>T ENSP00000466487.1:p.Gly27Val
ENST00000583850.5:n.485G>T
ENST00000583858.5:c.645G>T
ENST00000585203.6:n.905G>T
NM_000018.3:c.1714G>T NP_000009.1:p.Ala572Ser
NM_001033859.2:c.1648G>T NP_001029031.1:p.Ala550Ser
NM_001270447.1:c.1783G>T NP_001257376.1:p.Ala595Ser
NM_001270448.1:c.1486G>T NP_001257377.1:p.Ala496Ser
XM_006721516.2:c.1679-38G>T XP_006721579.2:n.1679-38G>T
XM_011523829.1:c.1577-38G>T XP_011522131.1:n.1577-38G>T
XM_011523830.1:c.1612G>T XP_011522132.1:p.Ala538Ser
XR_934021.1:n.1817G>T
XR_934022.1:n.1723G>T
XR_934023.1:n.1688-38G>T
XM_006721516.3:c.1679-38G>T XP_006721579.2:n.1679-38G>T
XM_011523829.2:c.1577-38G>T XP_011522131.1:n.1577-38G>T
XM_011523830.2:c.1612G>T XP_011522132.1:p.Ala538Ser
XM_024450741.1:c.1702G>T XP_024306509.1:p.Ala568Ser
XR_934021.2:n.1769G>T
XR_934022.2:n.1675G>T
XR_934023.2:n.1640-38G>T
NM_000018.4:c.1714G>T MANE Select NP_000009.1:p.Ala572Ser
NM_001033859.3:c.1648G>T NP_001029031.1:p.Ala550Ser
NM_001270447.2:c.1783G>T NP_001257376.1:p.Ala595Ser
NM_001270448.2:c.1486G>T NP_001257377.1:p.Ala496Ser