Canonical Allele Identifier: CA397725695
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224666-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224666T>C , CM000679.2:g.7224666T>C GRCh38
NC_000017.10:g.7127985T>C , CM000679.1:g.7127985T>C GRCh37
NC_000017.9:g.7068709T>C NCBI36
NG_007975.1:g.9833T>C
NG_008391.2:g.385A>G
NG_033038.1:g.14879A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1703T>C MANE Select ENSP00000349297.5:p.Leu568Pro
ENST00000322910.9:c.*1658T>C ENSP00000325395.5:n.*1658T>C
ENST00000350303.9:c.1637T>C ENSP00000344152.5:p.Leu546Pro
ENST00000356839.9:c.1703T>C ENSP00000349297.5:p.Leu568Pro
ENST00000542255.6:c.537-49T>C
ENST00000543245.6:c.1772T>C ENSP00000438689.2:p.Leu591Pro
ENST00000578033.1:n.34T>C
ENST00000578319.5:n.284T>C
ENST00000578711.1:n.1162T>C
ENST00000578809.5:n.275T>C
ENST00000579425.5:n.819T>C
ENST00000579546.1:c.438T>C
ENST00000583074.5:n.300-49T>C
ENST00000583848.5:c.69T>C ENSP00000466487.1:p.Ala23=
ENST00000583850.5:n.474T>C
ENST00000583858.5:c.634T>C
ENST00000585203.6:n.894T>C
NM_000018.3:c.1703T>C NP_000009.1:p.Leu568Pro
NM_001033859.2:c.1637T>C NP_001029031.1:p.Leu546Pro
NM_001270447.1:c.1772T>C NP_001257376.1:p.Leu591Pro
NM_001270448.1:c.1475T>C NP_001257377.1:p.Leu492Pro
XM_006721516.2:c.1679-49T>C XP_006721579.2:n.1679-49T>C
XM_011523829.1:c.1577-49T>C XP_011522131.1:n.1577-49T>C
XM_011523830.1:c.1601T>C XP_011522132.1:p.Leu534Pro
XR_934021.1:n.1806T>C
XR_934022.1:n.1712T>C
XR_934023.1:n.1688-49T>C
XM_006721516.3:c.1679-49T>C XP_006721579.2:n.1679-49T>C
XM_011523829.2:c.1577-49T>C XP_011522131.1:n.1577-49T>C
XM_011523830.2:c.1601T>C XP_011522132.1:p.Leu534Pro
XM_024450741.1:c.1691T>C XP_024306509.1:p.Leu564Pro
XR_934021.2:n.1758T>C
XR_934022.2:n.1664T>C
XR_934023.2:n.1640-49T>C
NM_000018.4:c.1703T>C MANE Select NP_000009.1:p.Leu568Pro
NM_001033859.3:c.1637T>C NP_001029031.1:p.Leu546Pro
NM_001270447.2:c.1772T>C NP_001257376.1:p.Leu591Pro
NM_001270448.2:c.1475T>C NP_001257377.1:p.Leu492Pro