Canonical Allele Identifier: CA497620248
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1573787
ClinVar RCV Id: RCV002217888
dbSNP Id: rs2142980519
gnomAD v4: 17-7222805-T-C
MyVariant Identifiers: chr17:g.7126124T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222805T>C , CM000679.2:g.7222805T>C GRCh38
NC_000017.10:g.7126124T>C , CM000679.1:g.7126124T>C GRCh37
NC_000017.9:g.7066848T>C NCBI36
NG_007975.1:g.7972T>C
NG_008391.2:g.2246A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1017T>C MANE Select ENSP00000349297.5:p.Asn339=
ENST00000322910.9:c.*972T>C ENSP00000325395.5:n.*972T>C
ENST00000350303.9:c.951T>C ENSP00000344152.5:p.Asn317=
ENST00000356839.9:c.1017T>C ENSP00000349297.5:p.Asn339=
ENST00000543245.6:c.1086T>C ENSP00000438689.2:p.Asn362=
ENST00000578824.5:n.166T>C
ENST00000581378.5:c.735T>C
ENST00000582379.1:n.401T>C
ENST00000583858.5:c.46T>C
NM_000018.3:c.1017T>C NP_000009.1:p.Asn339=
NM_001033859.2:c.951T>C NP_001029031.1:p.Asn317=
NM_001270447.1:c.1086T>C NP_001257376.1:p.Asn362=
NM_001270448.1:c.789T>C NP_001257377.1:p.Asn263=
XM_006721516.2:c.1017T>C XP_006721579.2:p.Asn339=
XM_011523829.1:c.1017T>C XP_011522131.1:p.Asn339=
XM_011523830.1:c.1017T>C XP_011522132.1:p.Asn339=
XR_934021.1:n.1124T>C
XR_934022.1:n.1124T>C
XR_934023.1:n.1124T>C
XM_006721516.3:c.1017T>C XP_006721579.2:p.Asn339=
XM_011523829.2:c.1017T>C XP_011522131.1:p.Asn339=
XM_011523830.2:c.1017T>C XP_011522132.1:p.Asn339=
XM_024450741.1:c.1017T>C XP_024306509.1:p.Asn339=
XR_934021.2:n.1076T>C
XR_934022.2:n.1076T>C
XR_934023.2:n.1076T>C
NM_000018.4:c.1017T>C MANE Select NP_000009.1:p.Asn339=
NM_001033859.3:c.951T>C NP_001029031.1:p.Asn317=
NM_001270447.2:c.1086T>C NP_001257376.1:p.Asn362=
NM_001270448.2:c.789T>C NP_001257377.1:p.Asn263=
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