Canonical Allele Identifier: CA397724211
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126141C>G (hg19) chr17:g.7222822C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222822C>G , CM000679.2:g.7222822C>G GRCh38
NC_000017.10:g.7126141C>G , CM000679.1:g.7126141C>G GRCh37
NC_000017.9:g.7066865C>G NCBI36
NG_007975.1:g.7989C>G
NG_008391.2:g.2229G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1034C>G MANE Select ENSP00000349297.5:p.Ala345Gly
ENST00000322910.9:c.*989C>G ENSP00000325395.5:n.*989C>G
ENST00000350303.9:c.968C>G ENSP00000344152.5:p.Ala323Gly
ENST00000356839.9:c.1034C>G ENSP00000349297.5:p.Ala345Gly
ENST00000543245.6:c.1103C>G ENSP00000438689.2:p.Ala368Gly
ENST00000578824.5:n.183C>G
ENST00000581378.5:c.752C>G
ENST00000582379.1:n.418C>G
ENST00000583858.5:c.63C>G
NM_000018.3:c.1034C>G NP_000009.1:p.Ala345Gly
NM_001033859.2:c.968C>G NP_001029031.1:p.Ala323Gly
NM_001270447.1:c.1103C>G NP_001257376.1:p.Ala368Gly
NM_001270448.1:c.806C>G NP_001257377.1:p.Ala269Gly
XM_006721516.2:c.1034C>G XP_006721579.2:p.Ala345Gly
XM_011523829.1:c.1034C>G XP_011522131.1:p.Ala345Gly
XM_011523830.1:c.1034C>G XP_011522132.1:p.Ala345Gly
XR_934021.1:n.1141C>G
XR_934022.1:n.1141C>G
XR_934023.1:n.1141C>G
XM_006721516.3:c.1034C>G XP_006721579.2:p.Ala345Gly
XM_011523829.2:c.1034C>G XP_011522131.1:p.Ala345Gly
XM_011523830.2:c.1034C>G XP_011522132.1:p.Ala345Gly
XM_024450741.1:c.1034C>G XP_024306509.1:p.Ala345Gly
XR_934021.2:n.1093C>G
XR_934022.2:n.1093C>G
XR_934023.2:n.1093C>G
NM_000018.4:c.1034C>G MANE Select NP_000009.1:p.Ala345Gly
NM_001033859.3:c.968C>G NP_001029031.1:p.Ala323Gly
NM_001270447.2:c.1103C>G NP_001257376.1:p.Ala368Gly
NM_001270448.2:c.806C>G NP_001257377.1:p.Ala269Gly
Search 100 bp 5'
Search 100 bp 3'