Canonical Allele Identifier: CA405473077

Gene: TBCB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36121562G>C , CM000681.2:g.36121562G>C	GRCh38
NC_000019.9:g.36612464G>C , CM000681.1:g.36612464G>C	GRCh37
NC_000019.8:g.41304304G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221855.8:c.391G>C MANE Select	ENSP00000221855.3:p.Gly131Arg
ENST00000651435.1:c.391G>C	ENSP00000498740.1:p.Gly131Arg
ENST00000221855.7:c.391G>C	ENSP00000221855.3:p.Gly131Arg
ENST00000392178.8:n.468G>C
ENST00000585746.1:c.238G>C	ENSP00000467487.1:p.Gly80Arg
ENST00000585910.5:n.361G>C
ENST00000586868.1:c.106-3889G>C	ENSP00000468055.1:n.106-3889G>C
ENST00000588385.5:c.238G>C	ENSP00000467172.1:p.Gly80Arg
ENST00000589308.1:n.378G>C
ENST00000589996.5:c.391G>C	ENSP00000465447.1:p.Gly131Arg
NM_001281.2:c.391G>C	NP_001272.2:p.Gly131Arg
NM_001300971.1:c.238G>C	NP_001287900.1:p.Gly80Arg
NM_001300971.2:c.238G>C	NP_001287900.1:p.Gly80Arg
NR_155756.1:n.966G>C
NM_001281.3:c.391G>C MANE Select	NP_001272.2:p.Gly131Arg
NM_001300971.3:c.238G>C	NP_001287900.1:p.Gly80Arg
NR_155756.2:n.985G>C