Canonical Allele Identifier: CA497620198
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126043T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222724T>C , CM000679.2:g.7222724T>C GRCh38
NC_000017.10:g.7126043T>C , CM000679.1:g.7126043T>C GRCh37
NC_000017.9:g.7066767T>C NCBI36
NG_007975.1:g.7891T>C
NG_008391.2:g.2327A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.936T>C MANE Select ENSP00000349297.5:p.Phe312=
ENST00000322910.9:c.*891T>C ENSP00000325395.5:n.*891T>C
ENST00000350303.9:c.870T>C ENSP00000344152.5:p.Phe290=
ENST00000356839.9:c.936T>C ENSP00000349297.5:p.Phe312=
ENST00000543245.6:c.1005T>C ENSP00000438689.2:p.Phe335=
ENST00000578824.5:n.85T>C
ENST00000581378.5:c.654T>C
ENST00000582379.1:n.320T>C
NM_000018.3:c.936T>C NP_000009.1:p.Phe312=
NM_001033859.2:c.870T>C NP_001029031.1:p.Phe290=
NM_001270447.1:c.1005T>C NP_001257376.1:p.Phe335=
NM_001270448.1:c.708T>C NP_001257377.1:p.Phe236=
XM_006721516.2:c.936T>C XP_006721579.2:p.Phe312=
XM_011523829.1:c.936T>C XP_011522131.1:p.Phe312=
XM_011523830.1:c.936T>C XP_011522132.1:p.Phe312=
XR_934021.1:n.1043T>C
XR_934022.1:n.1043T>C
XR_934023.1:n.1043T>C
XM_006721516.3:c.936T>C XP_006721579.2:p.Phe312=
XM_011523829.2:c.936T>C XP_011522131.1:p.Phe312=
XM_011523830.2:c.936T>C XP_011522132.1:p.Phe312=
XM_024450741.1:c.936T>C XP_024306509.1:p.Phe312=
XR_934021.2:n.995T>C
XR_934022.2:n.995T>C
XR_934023.2:n.995T>C
NM_000018.4:c.936T>C MANE Select NP_000009.1:p.Phe312=
NM_001033859.3:c.870T>C NP_001029031.1:p.Phe290=
NM_001270447.2:c.1005T>C NP_001257376.1:p.Phe335=
NM_001270448.2:c.708T>C NP_001257377.1:p.Phe236=
Search 100 bp 5'
Search 100 bp 3'