Canonical Allele Identifier: CA397725701
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224669-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224669C>T , CM000679.2:g.7224669C>T GRCh38
NC_000017.10:g.7127988C>T , CM000679.1:g.7127988C>T GRCh37
NC_000017.9:g.7068712C>T NCBI36
NG_007975.1:g.9836C>T
NG_008391.2:g.382G>A
NG_033038.1:g.14876G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1706C>T MANE Select ENSP00000349297.5:p.Ala569Val
ENST00000322910.9:c.*1661C>T ENSP00000325395.5:n.*1661C>T
ENST00000350303.9:c.1640C>T ENSP00000344152.5:p.Ala547Val
ENST00000356839.9:c.1706C>T ENSP00000349297.5:p.Ala569Val
ENST00000542255.6:c.537-46C>T
ENST00000543245.6:c.1775C>T ENSP00000438689.2:p.Ala592Val
ENST00000578033.1:n.37C>T
ENST00000578319.5:n.287C>T
ENST00000578711.1:n.1165C>T
ENST00000578809.5:n.278C>T
ENST00000579425.5:n.822C>T
ENST00000579546.1:c.441C>T
ENST00000583074.5:n.300-46C>T
ENST00000583848.5:c.72C>T ENSP00000466487.1:p.Gly24=
ENST00000583850.5:n.477C>T
ENST00000583858.5:c.637C>T
ENST00000585203.6:n.897C>T
NM_000018.3:c.1706C>T NP_000009.1:p.Ala569Val
NM_001033859.2:c.1640C>T NP_001029031.1:p.Ala547Val
NM_001270447.1:c.1775C>T NP_001257376.1:p.Ala592Val
NM_001270448.1:c.1478C>T NP_001257377.1:p.Ala493Val
XM_006721516.2:c.1679-46C>T XP_006721579.2:n.1679-46C>T
XM_011523829.1:c.1577-46C>T XP_011522131.1:n.1577-46C>T
XM_011523830.1:c.1604C>T XP_011522132.1:p.Ala535Val
XR_934021.1:n.1809C>T
XR_934022.1:n.1715C>T
XR_934023.1:n.1688-46C>T
XM_006721516.3:c.1679-46C>T XP_006721579.2:n.1679-46C>T
XM_011523829.2:c.1577-46C>T XP_011522131.1:n.1577-46C>T
XM_011523830.2:c.1604C>T XP_011522132.1:p.Ala535Val
XM_024450741.1:c.1694C>T XP_024306509.1:p.Ala565Val
XR_934021.2:n.1761C>T
XR_934022.2:n.1667C>T
XR_934023.2:n.1640-46C>T
NM_000018.4:c.1706C>T MANE Select NP_000009.1:p.Ala569Val
NM_001033859.3:c.1640C>T NP_001029031.1:p.Ala547Val
NM_001270447.2:c.1775C>T NP_001257376.1:p.Ala592Val
NM_001270448.2:c.1478C>T NP_001257377.1:p.Ala493Val