Canonical Allele Identifier: CA397725618
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224547T>G , CM000679.2:g.7224547T>G GRCh38
NC_000017.10:g.7127866T>G , CM000679.1:g.7127866T>G GRCh37
NC_000017.9:g.7068590T>G NCBI36
NG_007975.1:g.9714T>G
NG_008391.2:g.504A>C
NG_033038.1:g.14998A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1673T>G MANE Select ENSP00000349297.5:p.Ile558Ser
ENST00000322910.9:c.*1628T>G ENSP00000325395.5:n.*1628T>G
ENST00000350303.9:c.1607T>G ENSP00000344152.5:p.Ile536Ser
ENST00000356839.9:c.1673T>G ENSP00000349297.5:p.Ile558Ser
ENST00000542255.6:c.531T>G
ENST00000543245.6:c.1742T>G ENSP00000438689.2:p.Ile581Ser
ENST00000578319.5:n.254T>G
ENST00000578711.1:n.1043T>G
ENST00000578809.5:n.245T>G
ENST00000579391.1:n.277T>G
ENST00000579425.5:n.789T>G
ENST00000579546.1:c.408T>G
ENST00000582450.1:n.181T>G
ENST00000583074.5:n.294T>G
ENST00000583848.5:c.59T>G ENSP00000466487.1:p.Ile20Ser
ENST00000583850.5:n.444T>G
ENST00000583858.5:c.604T>G
ENST00000585203.6:n.864T>G
NM_000018.3:c.1673T>G NP_000009.1:p.Ile558Ser
NM_001033859.2:c.1607T>G NP_001029031.1:p.Ile536Ser
NM_001270447.1:c.1742T>G NP_001257376.1:p.Ile581Ser
NM_001270448.1:c.1445T>G NP_001257377.1:p.Ile482Ser
XM_006721516.2:c.1673T>G XP_006721579.2:p.Ile558Ser
XM_011523829.1:c.1571T>G XP_011522131.1:p.Ile524Ser
XM_011523830.1:c.1571T>G XP_011522132.1:p.Ile524Ser
XR_934021.1:n.1776T>G
XR_934022.1:n.1682T>G
XR_934023.1:n.1682T>G
XM_006721516.3:c.1673T>G XP_006721579.2:p.Ile558Ser
XM_011523829.2:c.1571T>G XP_011522131.1:p.Ile524Ser
XM_011523830.2:c.1571T>G XP_011522132.1:p.Ile524Ser
XM_024450741.1:c.1661T>G XP_024306509.1:p.Ile554Ser
XR_934021.2:n.1728T>G
XR_934022.2:n.1634T>G
XR_934023.2:n.1634T>G
NM_000018.4:c.1673T>G MANE Select NP_000009.1:p.Ile558Ser
NM_001033859.3:c.1607T>G NP_001029031.1:p.Ile536Ser
NM_001270447.2:c.1742T>G NP_001257376.1:p.Ile581Ser
NM_001270448.2:c.1445T>G NP_001257377.1:p.Ile482Ser