Canonical Allele Identifier: CA397725529
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224505C>G , CM000679.2:g.7224505C>G GRCh38
NC_000017.10:g.7127824C>G , CM000679.1:g.7127824C>G GRCh37
NC_000017.9:g.7068548C>G NCBI36
NG_007975.1:g.9672C>G
NG_008391.2:g.546G>C
NG_033038.1:g.15040G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1631C>G MANE Select ENSP00000349297.5:p.Ala544Gly
ENST00000322910.9:c.*1586C>G ENSP00000325395.5:n.*1586C>G
ENST00000350303.9:c.1565C>G ENSP00000344152.5:p.Ala522Gly
ENST00000356839.9:c.1631C>G ENSP00000349297.5:p.Ala544Gly
ENST00000542255.6:c.489C>G
ENST00000543245.6:c.1700C>G ENSP00000438689.2:p.Ala567Gly
ENST00000578319.5:n.212C>G
ENST00000578711.1:n.1001C>G
ENST00000578809.5:n.203C>G
ENST00000579391.1:n.235C>G
ENST00000579425.5:n.747C>G
ENST00000579546.1:c.366C>G
ENST00000579894.5:n.418C>G
ENST00000582450.1:n.139C>G
ENST00000583074.5:n.252C>G
ENST00000583848.5:c.17C>G ENSP00000466487.1:p.Ala6Gly
ENST00000583850.5:n.402C>G
ENST00000583858.5:c.562C>G
ENST00000585203.6:n.822C>G
NM_000018.3:c.1631C>G NP_000009.1:p.Ala544Gly
NM_001033859.2:c.1565C>G NP_001029031.1:p.Ala522Gly
NM_001270447.1:c.1700C>G NP_001257376.1:p.Ala567Gly
NM_001270448.1:c.1403C>G NP_001257377.1:p.Ala468Gly
XM_006721516.2:c.1631C>G XP_006721579.2:p.Ala544Gly
XM_011523829.1:c.1529C>G XP_011522131.1:p.Ala510Gly
XM_011523830.1:c.1529C>G XP_011522132.1:p.Ala510Gly
XR_934021.1:n.1734C>G
XR_934022.1:n.1640C>G
XR_934023.1:n.1640C>G
XM_006721516.3:c.1631C>G XP_006721579.2:p.Ala544Gly
XM_011523829.2:c.1529C>G XP_011522131.1:p.Ala510Gly
XM_011523830.2:c.1529C>G XP_011522132.1:p.Ala510Gly
XM_024450741.1:c.1619C>G XP_024306509.1:p.Ala540Gly
XR_934021.2:n.1686C>G
XR_934022.2:n.1592C>G
XR_934023.2:n.1592C>G
NM_000018.4:c.1631C>G MANE Select NP_000009.1:p.Ala544Gly
NM_001033859.3:c.1565C>G NP_001029031.1:p.Ala522Gly
NM_001270447.2:c.1700C>G NP_001257376.1:p.Ala567Gly
NM_001270448.2:c.1403C>G NP_001257377.1:p.Ala468Gly