Canonical Allele Identifier: CA287435425
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 557575
dbSNP Id: rs1032857886
gnomAD v4: 17-7221020-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221020C>T , CM000679.2:g.7221020C>T GRCh38
NC_000017.10:g.7124339C>T , CM000679.1:g.7124339C>T GRCh37
NC_000017.9:g.7065063C>T NCBI36
NG_007975.1:g.6187C>T
NG_008391.2:g.4031G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.439C>T MANE Select ENSP00000349297.5:p.Pro147Ser
ENST00000322910.9:c.*394C>T ENSP00000325395.5:n.*394C>T
ENST00000350303.9:c.373C>T ENSP00000344152.5:p.Pro125Ser
ENST00000356839.9:c.439C>T ENSP00000349297.5:p.Pro147Ser
ENST00000543245.6:c.508C>T ENSP00000438689.2:p.Pro170Ser
ENST00000577191.5:n.516C>T
ENST00000577433.5:n.647C>T
ENST00000577857.5:n.293+190C>T
ENST00000579286.5:n.620C>T
ENST00000579886.2:c.277C>T ENSP00000463246.1:p.Pro93Ser
ENST00000580365.1:n.170C>T
ENST00000581378.5:c.138C>T
ENST00000581562.5:n.486C>T
ENST00000582056.5:n.622C>T
ENST00000582166.1:n.420C>T
ENST00000583312.5:c.439C>T ENSP00000467920.1:p.Pro147Ser
ENST00000584103.5:c.472C>T
NM_000018.3:c.439C>T NP_000009.1:p.Pro147Ser
NM_001033859.2:c.373C>T NP_001029031.1:p.Pro125Ser
NM_001270447.1:c.508C>T NP_001257376.1:p.Pro170Ser
NM_001270448.1:c.211C>T NP_001257377.1:p.Pro71Ser
XM_006721516.2:c.439C>T XP_006721579.2:p.Pro147Ser
XM_011523829.1:c.439C>T XP_011522131.1:p.Pro147Ser
XM_011523830.1:c.439C>T XP_011522132.1:p.Pro147Ser
XR_934021.1:n.546C>T
XR_934022.1:n.546C>T
XR_934023.1:n.546C>T
XM_006721516.3:c.439C>T XP_006721579.2:p.Pro147Ser
XM_011523829.2:c.439C>T XP_011522131.1:p.Pro147Ser
XM_011523830.2:c.439C>T XP_011522132.1:p.Pro147Ser
XM_024450741.1:c.439C>T XP_024306509.1:p.Pro147Ser
XR_934021.2:n.498C>T
XR_934022.2:n.498C>T
XR_934023.2:n.498C>T
NM_000018.4:c.439C>T MANE Select NP_000009.1:p.Pro147Ser
NM_001033859.3:c.373C>T NP_001029031.1:p.Pro125Ser
NM_001270447.2:c.508C>T NP_001257376.1:p.Pro170Ser
NM_001270448.2:c.211C>T NP_001257377.1:p.Pro71Ser