Canonical Allele Identifier: CA397725181
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127493G>T (hg19) chr17:g.7224174G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224174G>T , CM000679.2:g.7224174G>T GRCh38
NC_000017.10:g.7127493G>T , CM000679.1:g.7127493G>T GRCh37
NC_000017.9:g.7068217G>T NCBI36
NG_007975.1:g.9341G>T
NG_008391.2:g.877C>A
NG_033038.1:g.15371C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1463G>T MANE Select ENSP00000349297.5:p.Gly488Val
ENST00000322910.9:c.*1418G>T ENSP00000325395.5:n.*1418G>T
ENST00000350303.9:c.1397G>T ENSP00000344152.5:p.Gly466Val
ENST00000356839.9:c.1463G>T ENSP00000349297.5:p.Gly488Val
ENST00000542255.6:c.321G>T
ENST00000543245.6:c.1532G>T ENSP00000438689.2:p.Gly511Val
ENST00000578711.1:n.670G>T
ENST00000579391.1:n.71G>T
ENST00000579425.5:n.579G>T
ENST00000579546.1:c.271+105G>T
ENST00000579894.5:n.250G>T
ENST00000583074.5:n.153+105G>T
ENST00000583850.5:n.238G>T
ENST00000583858.5:c.463+105G>T
ENST00000585203.6:n.654G>T
NM_000018.3:c.1463G>T NP_000009.1:p.Gly488Val
NM_001033859.2:c.1397G>T NP_001029031.1:p.Gly466Val
NM_001270447.1:c.1532G>T NP_001257376.1:p.Gly511Val
NM_001270448.1:c.1235G>T NP_001257377.1:p.Gly412Val
XM_006721516.2:c.1463G>T XP_006721579.2:p.Gly488Val
XM_011523829.1:c.1434+105G>T XP_011522131.1:n.1434+105G>T
XM_011523830.1:c.1434+105G>T XP_011522132.1:n.1434+105G>T
XR_934021.1:n.1570G>T
XR_934022.1:n.1541+105G>T
XR_934023.1:n.1541+105G>T
XM_006721516.3:c.1463G>T XP_006721579.2:p.Gly488Val
XM_011523829.2:c.1434+105G>T XP_011522131.1:n.1434+105G>T
XM_011523830.2:c.1434+105G>T XP_011522132.1:n.1434+105G>T
XM_024450741.1:c.1434+105G>T XP_024306509.1:n.1434+105G>T
XR_934021.2:n.1522G>T
XR_934022.2:n.1493+105G>T
XR_934023.2:n.1493+105G>T
NM_000018.4:c.1463G>T MANE Select NP_000009.1:p.Gly488Val
NM_001033859.3:c.1397G>T NP_001029031.1:p.Gly466Val
NM_001270447.2:c.1532G>T NP_001257376.1:p.Gly511Val
NM_001270448.2:c.1235G>T NP_001257377.1:p.Gly412Val
Search 100 bp 5'
Search 100 bp 3'