Canonical Allele Identifier: CA497619912
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125556C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222237C>T , CM000679.2:g.7222237C>T GRCh38
NC_000017.10:g.7125556C>T , CM000679.1:g.7125556C>T GRCh37
NC_000017.9:g.7066280C>T NCBI36
NG_007975.1:g.7404C>T
NG_008391.2:g.2814G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.813C>T MANE Select ENSP00000349297.5:p.Ala271=
ENST00000322910.9:c.*768C>T ENSP00000325395.5:n.*768C>T
ENST00000350303.9:c.747C>T ENSP00000344152.5:p.Ala249=
ENST00000356839.9:c.813C>T ENSP00000349297.5:p.Ala271=
ENST00000543245.6:c.882C>T ENSP00000438689.2:p.Ala294=
ENST00000577191.5:n.985C>T
ENST00000581378.5:c.531C>T
ENST00000582379.1:n.197C>T
NM_000018.3:c.813C>T NP_000009.1:p.Ala271=
NM_001033859.2:c.747C>T NP_001029031.1:p.Ala249=
NM_001270447.1:c.882C>T NP_001257376.1:p.Ala294=
NM_001270448.1:c.585C>T NP_001257377.1:p.Ala195=
XM_006721516.2:c.813C>T XP_006721579.2:p.Ala271=
XM_011523829.1:c.813C>T XP_011522131.1:p.Ala271=
XM_011523830.1:c.813C>T XP_011522132.1:p.Ala271=
XR_934021.1:n.920C>T
XR_934022.1:n.920C>T
XR_934023.1:n.920C>T
XM_006721516.3:c.813C>T XP_006721579.2:p.Ala271=
XM_011523829.2:c.813C>T XP_011522131.1:p.Ala271=
XM_011523830.2:c.813C>T XP_011522132.1:p.Ala271=
XM_024450741.1:c.813C>T XP_024306509.1:p.Ala271=
XR_934021.2:n.872C>T
XR_934022.2:n.872C>T
XR_934023.2:n.872C>T
NM_000018.4:c.813C>T MANE Select NP_000009.1:p.Ala271=
NM_001033859.3:c.747C>T NP_001029031.1:p.Ala249=
NM_001270447.2:c.882C>T NP_001257376.1:p.Ala294=
NM_001270448.2:c.585C>T NP_001257377.1:p.Ala195=
Search 100 bp 5'
Search 100 bp 3'