Canonical Allele Identifier: CA397722743
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs768219726
gnomAD v4: 17-7220944-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220944G>C , CM000679.2:g.7220944G>C GRCh38
NC_000017.10:g.7124263G>C , CM000679.1:g.7124263G>C GRCh37
NC_000017.9:g.7064987G>C NCBI36
NG_007975.1:g.6111G>C
NG_008391.2:g.4107C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.363G>C MANE Select ENSP00000349297.5:p.Lys121Asn
ENST00000322910.9:c.*318G>C ENSP00000325395.5:n.*318G>C
ENST00000350303.9:c.297G>C ENSP00000344152.5:p.Lys99Asn
ENST00000356839.9:c.363G>C ENSP00000349297.5:p.Lys121Asn
ENST00000543245.6:c.432G>C ENSP00000438689.2:p.Lys144Asn
ENST00000577191.5:n.440G>C
ENST00000577433.5:n.571G>C
ENST00000577857.5:n.293+114G>C
ENST00000579286.5:n.544G>C
ENST00000579886.2:c.202-1G>C ENSP00000463246.1:n.202-1G>C
ENST00000580365.1:n.94G>C
ENST00000581378.5:c.62G>C
ENST00000581562.5:n.410G>C
ENST00000582056.5:n.546G>C
ENST00000582166.1:n.344G>C
ENST00000583312.5:c.363G>C ENSP00000467920.1:p.Lys121Asn
ENST00000584103.5:c.396G>C ENSP00000465353.1:p.Lys132Asn
NM_000018.3:c.363G>C NP_000009.1:p.Lys121Asn
NM_001033859.2:c.297G>C NP_001029031.1:p.Lys99Asn
NM_001270447.1:c.432G>C NP_001257376.1:p.Lys144Asn
NM_001270448.1:c.135G>C NP_001257377.1:p.Lys45Asn
XM_006721516.2:c.363G>C XP_006721579.2:p.Lys121Asn
XM_011523829.1:c.363G>C XP_011522131.1:p.Lys121Asn
XM_011523830.1:c.363G>C XP_011522132.1:p.Lys121Asn
XR_934021.1:n.470G>C
XR_934022.1:n.470G>C
XR_934023.1:n.470G>C
XM_006721516.3:c.363G>C XP_006721579.2:p.Lys121Asn
XM_011523829.2:c.363G>C XP_011522131.1:p.Lys121Asn
XM_011523830.2:c.363G>C XP_011522132.1:p.Lys121Asn
XM_024450741.1:c.363G>C XP_024306509.1:p.Lys121Asn
XR_934021.2:n.422G>C
XR_934022.2:n.422G>C
XR_934023.2:n.422G>C
NM_000018.4:c.363G>C MANE Select NP_000009.1:p.Lys121Asn
NM_001033859.3:c.297G>C NP_001029031.1:p.Lys99Asn
NM_001270447.2:c.432G>C NP_001257376.1:p.Lys144Asn
NM_001270448.2:c.135G>C NP_001257377.1:p.Lys45Asn