Canonical Allele Identifier: CA397724280
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126175T>G (hg19) chr17:g.7222856T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222856T>G , CM000679.2:g.7222856T>G GRCh38
NC_000017.10:g.7126175T>G , CM000679.1:g.7126175T>G GRCh37
NC_000017.9:g.7066899T>G NCBI36
NG_007975.1:g.8023T>G
NG_008391.2:g.2195A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1068T>G MANE Select ENSP00000349297.5:p.Ile356Met
ENST00000322910.9:c.*1023T>G ENSP00000325395.5:n.*1023T>G
ENST00000350303.9:c.1002T>G ENSP00000344152.5:p.Ile334Met
ENST00000356839.9:c.1068T>G ENSP00000349297.5:p.Ile356Met
ENST00000543245.6:c.1137T>G ENSP00000438689.2:p.Ile379Met
ENST00000578824.5:n.217T>G
ENST00000582379.1:n.452T>G
ENST00000583858.5:c.97T>G
ENST00000585203.6:n.9T>G
NM_000018.3:c.1068T>G NP_000009.1:p.Ile356Met
NM_001033859.2:c.1002T>G NP_001029031.1:p.Ile334Met
NM_001270447.1:c.1137T>G NP_001257376.1:p.Ile379Met
NM_001270448.1:c.840T>G NP_001257377.1:p.Ile280Met
XM_006721516.2:c.1068T>G XP_006721579.2:p.Ile356Met
XM_011523829.1:c.1068T>G XP_011522131.1:p.Ile356Met
XM_011523830.1:c.1068T>G XP_011522132.1:p.Ile356Met
XR_934021.1:n.1175T>G
XR_934022.1:n.1175T>G
XR_934023.1:n.1175T>G
XM_006721516.3:c.1068T>G XP_006721579.2:p.Ile356Met
XM_011523829.2:c.1068T>G XP_011522131.1:p.Ile356Met
XM_011523830.2:c.1068T>G XP_011522132.1:p.Ile356Met
XM_024450741.1:c.1068T>G XP_024306509.1:p.Ile356Met
XR_934021.2:n.1127T>G
XR_934022.2:n.1127T>G
XR_934023.2:n.1127T>G
NM_000018.4:c.1068T>G MANE Select NP_000009.1:p.Ile356Met
NM_001033859.3:c.1002T>G NP_001029031.1:p.Ile334Met
NM_001270447.2:c.1137T>G NP_001257376.1:p.Ile379Met
NM_001270448.2:c.840T>G NP_001257377.1:p.Ile280Met
Search 100 bp 5'
Search 100 bp 3'