Canonical Allele Identifier: CA397724762
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127141T>G (hg19) chr17:g.7223822T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223822T>G , CM000679.2:g.7223822T>G GRCh38
NC_000017.10:g.7127141T>G , CM000679.1:g.7127141T>G GRCh37
NC_000017.9:g.7067865T>G NCBI36
NG_007975.1:g.8989T>G
NG_008391.2:g.1229A>C
NG_033038.1:g.15723A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1279T>G MANE Select ENSP00000349297.5:p.Trp427Gly
ENST00000322910.9:c.*1234T>G ENSP00000325395.5:n.*1234T>G
ENST00000350303.9:c.1213T>G ENSP00000344152.5:p.Trp405Gly
ENST00000356839.9:c.1279T>G ENSP00000349297.5:p.Trp427Gly
ENST00000542255.6:c.137T>G
ENST00000543245.6:c.1348T>G ENSP00000438689.2:p.Trp450Gly
ENST00000578579.2:n.450T>G
ENST00000578711.1:n.318T>G
ENST00000578824.5:n.695T>G
ENST00000579425.5:n.303T>G
ENST00000579546.1:c.116T>G
ENST00000583850.5:n.54T>G
ENST00000583858.5:c.308T>G
ENST00000585203.6:n.487T>G
NM_000018.3:c.1279T>G NP_000009.1:p.Trp427Gly
NM_001033859.2:c.1213T>G NP_001029031.1:p.Trp405Gly
NM_001270447.1:c.1348T>G NP_001257376.1:p.Trp450Gly
NM_001270448.1:c.1051T>G NP_001257377.1:p.Trp351Gly
XM_006721516.2:c.1279T>G XP_006721579.2:p.Trp427Gly
XM_011523829.1:c.1279T>G XP_011522131.1:p.Trp427Gly
XM_011523830.1:c.1279T>G XP_011522132.1:p.Trp427Gly
XR_934021.1:n.1386T>G
XR_934022.1:n.1386T>G
XR_934023.1:n.1386T>G
XM_006721516.3:c.1279T>G XP_006721579.2:p.Trp427Gly
XM_011523829.2:c.1279T>G XP_011522131.1:p.Trp427Gly
XM_011523830.2:c.1279T>G XP_011522132.1:p.Trp427Gly
XM_024450741.1:c.1279T>G XP_024306509.1:p.Trp427Gly
XR_934021.2:n.1338T>G
XR_934022.2:n.1338T>G
XR_934023.2:n.1338T>G
NM_000018.4:c.1279T>G MANE Select NP_000009.1:p.Trp427Gly
NM_001033859.3:c.1213T>G NP_001029031.1:p.Trp405Gly
NM_001270447.2:c.1348T>G NP_001257376.1:p.Trp450Gly
NM_001270448.2:c.1051T>G NP_001257377.1:p.Trp351Gly
Search 100 bp 5'
Search 100 bp 3'