Canonical Allele Identifier: CA397725608
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1295605212
gnomAD v2: 17-7127861-G-C
gnomAD v4: 17-7224542-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224542G>C , CM000679.2:g.7224542G>C GRCh38
NC_000017.10:g.7127861G>C , CM000679.1:g.7127861G>C GRCh37
NC_000017.9:g.7068585G>C NCBI36
NG_007975.1:g.9709G>C
NG_008391.2:g.509C>G
NG_033038.1:g.15003C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1668G>C MANE Select ENSP00000349297.5:p.Lys556Asn
ENST00000322910.9:c.*1623G>C ENSP00000325395.5:n.*1623G>C
ENST00000350303.9:c.1602G>C ENSP00000344152.5:p.Lys534Asn
ENST00000356839.9:c.1668G>C ENSP00000349297.5:p.Lys556Asn
ENST00000542255.6:c.526G>C
ENST00000543245.6:c.1737G>C ENSP00000438689.2:p.Lys579Asn
ENST00000578319.5:n.249G>C
ENST00000578711.1:n.1038G>C
ENST00000578809.5:n.240G>C
ENST00000579391.1:n.272G>C
ENST00000579425.5:n.784G>C
ENST00000579546.1:c.403G>C
ENST00000582450.1:n.176G>C
ENST00000583074.5:n.289G>C
ENST00000583848.5:c.54G>C ENSP00000466487.1:p.Lys18Asn
ENST00000583850.5:n.439G>C
ENST00000583858.5:c.599G>C
ENST00000585203.6:n.859G>C
NM_000018.3:c.1668G>C NP_000009.1:p.Lys556Asn
NM_001033859.2:c.1602G>C NP_001029031.1:p.Lys534Asn
NM_001270447.1:c.1737G>C NP_001257376.1:p.Lys579Asn
NM_001270448.1:c.1440G>C NP_001257377.1:p.Lys480Asn
XM_006721516.2:c.1668G>C XP_006721579.2:p.Lys556Asn
XM_011523829.1:c.1566G>C XP_011522131.1:p.Lys522Asn
XM_011523830.1:c.1566G>C XP_011522132.1:p.Lys522Asn
XR_934021.1:n.1771G>C
XR_934022.1:n.1677G>C
XR_934023.1:n.1677G>C
XM_006721516.3:c.1668G>C XP_006721579.2:p.Lys556Asn
XM_011523829.2:c.1566G>C XP_011522131.1:p.Lys522Asn
XM_011523830.2:c.1566G>C XP_011522132.1:p.Lys522Asn
XM_024450741.1:c.1656G>C XP_024306509.1:p.Lys552Asn
XR_934021.2:n.1723G>C
XR_934022.2:n.1629G>C
XR_934023.2:n.1629G>C
NM_000018.4:c.1668G>C MANE Select NP_000009.1:p.Lys556Asn
NM_001033859.3:c.1602G>C NP_001029031.1:p.Lys534Asn
NM_001270447.2:c.1737G>C NP_001257376.1:p.Lys579Asn
NM_001270448.2:c.1440G>C NP_001257377.1:p.Lys480Asn