Canonical Allele Identifier: CA6406529
Community Standard Title: NM_002342.3(LTBR):c.437C>T (p.Ser146Phe)
Gene: LTBR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6385344C>T , CM000674.2:g.6385344C>T GRCh38
NC_000012.11:g.6494510C>T , CM000674.1:g.6494510C>T GRCh37
NC_000012.10:g.6364771C>T NCBI36
NG_033039.1:g.14977C>T
NG_033039.2:g.14977C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002342.3:c.437C>T MANE Select NP_002333.1:p.Ser146Phe
ENST00000228918.9:c.437C>T MANE Select ENSP00000228918.4:p.Ser146Phe
NM_001270987.1:c.380C>T NP_001257916.1:p.Ser127Phe
NM_001270987.2:c.380C>T NP_001257916.1:p.Ser127Phe
NM_002342.2:c.437C>T NP_002333.1:p.Ser146Phe
ENST00000228918.8:c.437C>T ENSP00000228918.4:p.Ser146Phe
ENST00000535739.5:n.699C>T
ENST00000536876.5:c.422C>T ENSP00000437647.1:p.Ser141Phe
ENST00000539925.5:c.380C>T ENSP00000440875.1:p.Ser127Phe
ENST00000541102.1:c.116C>T ENSP00000438605.1:p.Ser39Phe
ENST00000543190.5:c.116C>T ENSP00000438955.1:p.Ser39Phe
ENST00000544454.5:c.116C>T ENSP00000437954.1:p.Ser39Phe
ENST00000545445.1:n.268C>T
XM_005253688.1:c.437C>T XP_005253745.1:p.Ser146Phe
XM_005253688.2:c.437C>T XP_005253745.1:p.Ser146Phe
XM_006718983.2:c.437C>T XP_006719046.1:p.Ser146Phe
XM_006718983.3:c.437C>T XP_006719046.1:p.Ser146Phe