Canonical Allele Identifier: CA397724604
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126991T>G (hg19) chr17:g.7223672T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223672T>G , CM000679.2:g.7223672T>G GRCh38
NC_000017.10:g.7126991T>G , CM000679.1:g.7126991T>G GRCh37
NC_000017.9:g.7067715T>G NCBI36
NG_007975.1:g.8839T>G
NG_008391.2:g.1379A>C
NG_033038.1:g.15873A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1211T>G MANE Select ENSP00000349297.5:p.Met404Arg
ENST00000322910.9:c.*1166T>G ENSP00000325395.5:n.*1166T>G
ENST00000350303.9:c.1145T>G ENSP00000344152.5:p.Met382Arg
ENST00000356839.9:c.1211T>G ENSP00000349297.5:p.Met404Arg
ENST00000542255.6:c.69T>G
ENST00000543245.6:c.1280T>G ENSP00000438689.2:p.Met427Arg
ENST00000578579.2:n.382T>G
ENST00000578711.1:n.168T>G
ENST00000578824.5:n.627T>G
ENST00000579425.5:n.235T>G
ENST00000579546.1:c.48T>G
ENST00000583858.5:c.240T>G
ENST00000585203.6:n.419T>G
NM_000018.3:c.1211T>G NP_000009.1:p.Met404Arg
NM_001033859.2:c.1145T>G NP_001029031.1:p.Met382Arg
NM_001270447.1:c.1280T>G NP_001257376.1:p.Met427Arg
NM_001270448.1:c.983T>G NP_001257377.1:p.Met328Arg
XM_006721516.2:c.1211T>G XP_006721579.2:p.Met404Arg
XM_011523829.1:c.1211T>G XP_011522131.1:p.Met404Arg
XM_011523830.1:c.1211T>G XP_011522132.1:p.Met404Arg
XR_934021.1:n.1318T>G
XR_934022.1:n.1318T>G
XR_934023.1:n.1318T>G
XM_006721516.3:c.1211T>G XP_006721579.2:p.Met404Arg
XM_011523829.2:c.1211T>G XP_011522131.1:p.Met404Arg
XM_011523830.2:c.1211T>G XP_011522132.1:p.Met404Arg
XM_024450741.1:c.1211T>G XP_024306509.1:p.Met404Arg
XR_934021.2:n.1270T>G
XR_934022.2:n.1270T>G
XR_934023.2:n.1270T>G
NM_000018.4:c.1211T>G MANE Select NP_000009.1:p.Met404Arg
NM_001033859.3:c.1145T>G NP_001029031.1:p.Met382Arg
NM_001270447.2:c.1280T>G NP_001257376.1:p.Met427Arg
NM_001270448.2:c.983T>G NP_001257377.1:p.Met328Arg
Search 100 bp 5'
Search 100 bp 3'