Canonical Allele Identifier: CA397724110
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126095T>A (hg19) chr17:g.7222776T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222776T>A , CM000679.2:g.7222776T>A GRCh38
NC_000017.10:g.7126095T>A , CM000679.1:g.7126095T>A GRCh37
NC_000017.9:g.7066819T>A NCBI36
NG_007975.1:g.7943T>A
NG_008391.2:g.2275A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.988T>A MANE Select ENSP00000349297.5:p.Phe330Ile
ENST00000322910.9:c.*943T>A ENSP00000325395.5:n.*943T>A
ENST00000350303.9:c.922T>A ENSP00000344152.5:p.Phe308Ile
ENST00000356839.9:c.988T>A ENSP00000349297.5:p.Phe330Ile
ENST00000543245.6:c.1057T>A ENSP00000438689.2:p.Phe353Ile
ENST00000578824.5:n.137T>A
ENST00000581378.5:c.706T>A
ENST00000582379.1:n.372T>A
ENST00000583858.5:c.17T>A
NM_000018.3:c.988T>A NP_000009.1:p.Phe330Ile
NM_001033859.2:c.922T>A NP_001029031.1:p.Phe308Ile
NM_001270447.1:c.1057T>A NP_001257376.1:p.Phe353Ile
NM_001270448.1:c.760T>A NP_001257377.1:p.Phe254Ile
XM_006721516.2:c.988T>A XP_006721579.2:p.Phe330Ile
XM_011523829.1:c.988T>A XP_011522131.1:p.Phe330Ile
XM_011523830.1:c.988T>A XP_011522132.1:p.Phe330Ile
XR_934021.1:n.1095T>A
XR_934022.1:n.1095T>A
XR_934023.1:n.1095T>A
XM_006721516.3:c.988T>A XP_006721579.2:p.Phe330Ile
XM_011523829.2:c.988T>A XP_011522131.1:p.Phe330Ile
XM_011523830.2:c.988T>A XP_011522132.1:p.Phe330Ile
XM_024450741.1:c.988T>A XP_024306509.1:p.Phe330Ile
XR_934021.2:n.1047T>A
XR_934022.2:n.1047T>A
XR_934023.2:n.1047T>A
NM_000018.4:c.988T>A MANE Select NP_000009.1:p.Phe330Ile
NM_001033859.3:c.922T>A NP_001029031.1:p.Phe308Ile
NM_001270447.2:c.1057T>A NP_001257376.1:p.Phe353Ile
NM_001270448.2:c.760T>A NP_001257377.1:p.Phe254Ile
Search 100 bp 5'
Search 100 bp 3'