Canonical Allele Identifier: CA7609551
Community Standard Title: NM_016213.5(TRIP4):c.1126T>G (p.Leu376Val)
Gene: TRIP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64414167T>G , CM000677.2:g.64414167T>G GRCh38
NC_000015.9:g.64706366T>G , CM000677.1:g.64706366T>G GRCh37
NC_000015.8:g.62493419T>G NCBI36
NG_046848.1:g.31364T>G

Transcript Alleles

HGVS Amino-acid Change
NM_016213.5:c.1126T>G MANE Select NP_057297.2:p.Leu376Val
ENST00000261884.8:c.1126T>G MANE Select ENSP00000261884.3:p.Leu376Val
NM_001321924.1:c.436T>G NP_001308853.1:p.Leu146Val
NM_001321924.2:c.436T>G NP_001308853.1:p.Leu146Val
NM_016213.4:c.1126T>G NP_057297.2:p.Leu376Val
NR_135855.1:n.1103+4339T>G
NR_135855.2:n.1071+4339T>G
ENST00000261884.7:c.1126T>G ENSP00000261884.3:p.Leu376Val
ENST00000560475.1:c.111+4339T>G
ENST00000560567.5:c.1043+4339T>G ENSP00000453106.1:n.1043+4339T>G
XM_005254789.1:c.436T>G XP_005254846.1:p.Leu146Val
XR_243130.1:n.1101+4339T>G