Canonical Allele Identifier: CA8337846
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 254704
dbSNP Id: rs143233413
gnomAD v2: 17-7125499-T-C
gnomAD v3: 17-7222180-T-C
gnomAD v4: 17-7222180-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222180T>C , CM000679.2:g.7222180T>C GRCh38
NC_000017.10:g.7125499T>C , CM000679.1:g.7125499T>C GRCh37
NC_000017.9:g.7066223T>C NCBI36
NG_007975.1:g.7347T>C
NG_008391.2:g.2871A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.756T>C MANE Select ENSP00000349297.5:p.Asn252=
ENST00000322910.9:c.*711T>C ENSP00000325395.5:n.*711T>C
ENST00000350303.9:c.690T>C ENSP00000344152.5:p.Asn230=
ENST00000356839.9:c.756T>C ENSP00000349297.5:p.Asn252=
ENST00000543245.6:c.825T>C ENSP00000438689.2:p.Asn275=
ENST00000577191.5:n.928T>C
ENST00000581378.5:c.474T>C
ENST00000582379.1:n.140T>C
NM_000018.3:c.756T>C NP_000009.1:p.Asn252=
NM_001033859.2:c.690T>C NP_001029031.1:p.Asn230=
NM_001270447.1:c.825T>C NP_001257376.1:p.Asn275=
NM_001270448.1:c.528T>C NP_001257377.1:p.Asn176=
XM_006721516.2:c.756T>C XP_006721579.2:p.Asn252=
XM_011523829.1:c.756T>C XP_011522131.1:p.Asn252=
XM_011523830.1:c.756T>C XP_011522132.1:p.Asn252=
XR_934021.1:n.863T>C
XR_934022.1:n.863T>C
XR_934023.1:n.863T>C
XM_006721516.3:c.756T>C XP_006721579.2:p.Asn252=
XM_011523829.2:c.756T>C XP_011522131.1:p.Asn252=
XM_011523830.2:c.756T>C XP_011522132.1:p.Asn252=
XM_024450741.1:c.756T>C XP_024306509.1:p.Asn252=
XR_934021.2:n.815T>C
XR_934022.2:n.815T>C
XR_934023.2:n.815T>C
NM_000018.4:c.756T>C MANE Select NP_000009.1:p.Asn252=
NM_001033859.3:c.690T>C NP_001029031.1:p.Asn230=
NM_001270447.2:c.825T>C NP_001257376.1:p.Asn275=
NM_001270448.2:c.528T>C NP_001257377.1:p.Asn176=