Canonical Allele Identifier: CA397723117
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221599C>G , CM000679.2:g.7221599C>G GRCh38
NC_000017.10:g.7124918C>G , CM000679.1:g.7124918C>G GRCh37
NC_000017.9:g.7065642C>G NCBI36
NG_007975.1:g.6766C>G
NG_008391.2:g.3452G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.539C>G MANE Select ENSP00000349297.5:p.Ala180Gly
ENST00000322910.9:c.*494C>G ENSP00000325395.5:n.*494C>G
ENST00000350303.9:c.473C>G ENSP00000344152.5:p.Ala158Gly
ENST00000356839.9:c.539C>G ENSP00000349297.5:p.Ala180Gly
ENST00000543245.6:c.608C>G ENSP00000438689.2:p.Ala203Gly
ENST00000577191.5:n.616C>G
ENST00000577433.5:n.747C>G
ENST00000577857.5:n.355C>G
ENST00000579286.5:n.720C>G
ENST00000579886.2:c.377C>G ENSP00000463246.1:p.Ala126Gly
ENST00000580365.1:n.270C>G
ENST00000581378.5:c.257C>G
ENST00000581562.5:n.525-353C>G
ENST00000582166.1:n.520C>G
ENST00000583312.5:c.539C>G ENSP00000467920.1:p.Ala180Gly
ENST00000583760.1:n.321C>G
NM_000018.3:c.539C>G NP_000009.1:p.Ala180Gly
NM_001033859.2:c.473C>G NP_001029031.1:p.Ala158Gly
NM_001270447.1:c.608C>G NP_001257376.1:p.Ala203Gly
NM_001270448.1:c.311C>G NP_001257377.1:p.Ala104Gly
XM_006721516.2:c.539C>G XP_006721579.2:p.Ala180Gly
XM_011523829.1:c.539C>G XP_011522131.1:p.Ala180Gly
XM_011523830.1:c.539C>G XP_011522132.1:p.Ala180Gly
XR_934021.1:n.646C>G
XR_934022.1:n.646C>G
XR_934023.1:n.646C>G
XM_006721516.3:c.539C>G XP_006721579.2:p.Ala180Gly
XM_011523829.2:c.539C>G XP_011522131.1:p.Ala180Gly
XM_011523830.2:c.539C>G XP_011522132.1:p.Ala180Gly
XM_024450741.1:c.539C>G XP_024306509.1:p.Ala180Gly
XR_934021.2:n.598C>G
XR_934022.2:n.598C>G
XR_934023.2:n.598C>G
NM_000018.4:c.539C>G MANE Select NP_000009.1:p.Ala180Gly
NM_001033859.3:c.473C>G NP_001029031.1:p.Ala158Gly
NM_001270447.2:c.608C>G NP_001257376.1:p.Ala203Gly
NM_001270448.2:c.311C>G NP_001257377.1:p.Ala104Gly