Canonical Allele Identifier: CA397724854
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127180A>G (hg19) chr17:g.7223861A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223861A>G , CM000679.2:g.7223861A>G GRCh38
NC_000017.10:g.7127180A>G , CM000679.1:g.7127180A>G GRCh37
NC_000017.9:g.7067904A>G NCBI36
NG_007975.1:g.9028A>G
NG_008391.2:g.1190T>C
NG_033038.1:g.15684T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1318A>G MANE Select ENSP00000349297.5:p.Met440Val
ENST00000322910.9:c.*1273A>G ENSP00000325395.5:n.*1273A>G
ENST00000350303.9:c.1252A>G ENSP00000344152.5:p.Met418Val
ENST00000356839.9:c.1318A>G ENSP00000349297.5:p.Met440Val
ENST00000542255.6:c.176A>G
ENST00000543245.6:c.1387A>G ENSP00000438689.2:p.Met463Val
ENST00000578711.1:n.357A>G
ENST00000579425.5:n.342A>G
ENST00000579546.1:c.155A>G
ENST00000583074.5:n.37A>G
ENST00000583850.5:n.93A>G
ENST00000583858.5:c.347A>G
ENST00000585203.6:n.523+3A>G
NM_000018.3:c.1318A>G NP_000009.1:p.Met440Val
NM_001033859.2:c.1252A>G NP_001029031.1:p.Met418Val
NM_001270447.1:c.1387A>G NP_001257376.1:p.Met463Val
NM_001270448.1:c.1090A>G NP_001257377.1:p.Met364Val
XM_006721516.2:c.1318A>G XP_006721579.2:p.Met440Val
XM_011523829.1:c.1318A>G XP_011522131.1:p.Met440Val
XM_011523830.1:c.1318A>G XP_011522132.1:p.Met440Val
XR_934021.1:n.1425A>G
XR_934022.1:n.1425A>G
XR_934023.1:n.1425A>G
XM_006721516.3:c.1318A>G XP_006721579.2:p.Met440Val
XM_011523829.2:c.1318A>G XP_011522131.1:p.Met440Val
XM_011523830.2:c.1318A>G XP_011522132.1:p.Met440Val
XM_024450741.1:c.1318A>G XP_024306509.1:p.Met440Val
XR_934021.2:n.1377A>G
XR_934022.2:n.1377A>G
XR_934023.2:n.1377A>G
NM_000018.4:c.1318A>G MANE Select NP_000009.1:p.Met440Val
NM_001033859.3:c.1252A>G NP_001029031.1:p.Met418Val
NM_001270447.2:c.1387A>G NP_001257376.1:p.Met463Val
NM_001270448.2:c.1090A>G NP_001257377.1:p.Met364Val
Search 100 bp 5'
Search 100 bp 3'