Canonical Allele Identifier: CA497620265
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126149C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222830C>T , CM000679.2:g.7222830C>T GRCh38
NC_000017.10:g.7126149C>T , CM000679.1:g.7126149C>T GRCh37
NC_000017.9:g.7066873C>T NCBI36
NG_007975.1:g.7997C>T
NG_008391.2:g.2221G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1042C>T MANE Select ENSP00000349297.5:p.Leu348=
ENST00000322910.9:c.*997C>T ENSP00000325395.5:n.*997C>T
ENST00000350303.9:c.976C>T ENSP00000344152.5:p.Leu326=
ENST00000356839.9:c.1042C>T ENSP00000349297.5:p.Leu348=
ENST00000543245.6:c.1111C>T ENSP00000438689.2:p.Leu371=
ENST00000578824.5:n.191C>T
ENST00000582379.1:n.426C>T
ENST00000583858.5:c.71C>T
NM_000018.3:c.1042C>T NP_000009.1:p.Leu348=
NM_001033859.2:c.976C>T NP_001029031.1:p.Leu326=
NM_001270447.1:c.1111C>T NP_001257376.1:p.Leu371=
NM_001270448.1:c.814C>T NP_001257377.1:p.Leu272=
XM_006721516.2:c.1042C>T XP_006721579.2:p.Leu348=
XM_011523829.1:c.1042C>T XP_011522131.1:p.Leu348=
XM_011523830.1:c.1042C>T XP_011522132.1:p.Leu348=
XR_934021.1:n.1149C>T
XR_934022.1:n.1149C>T
XR_934023.1:n.1149C>T
XM_006721516.3:c.1042C>T XP_006721579.2:p.Leu348=
XM_011523829.2:c.1042C>T XP_011522131.1:p.Leu348=
XM_011523830.2:c.1042C>T XP_011522132.1:p.Leu348=
XM_024450741.1:c.1042C>T XP_024306509.1:p.Leu348=
XR_934021.2:n.1101C>T
XR_934022.2:n.1101C>T
XR_934023.2:n.1101C>T
NM_000018.4:c.1042C>T MANE Select NP_000009.1:p.Leu348=
NM_001033859.3:c.976C>T NP_001029031.1:p.Leu326=
NM_001270447.2:c.1111C>T NP_001257376.1:p.Leu371=
NM_001270448.2:c.814C>T NP_001257377.1:p.Leu272=
Search 100 bp 5'
Search 100 bp 3'