Canonical Allele Identifier: CA9397222

Gene: TBCB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36125681C>T , CM000681.2:g.36125681C>T	GRCh38
NC_000019.9:g.36616583C>T , CM000681.1:g.36616583C>T	GRCh37
NC_000019.8:g.41308423C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221855.8:c.634C>T MANE Select	ENSP00000221855.3:p.Arg212Cys
ENST00000651435.1:c.748C>T	ENSP00000498740.1:p.Arg250Cys
ENST00000221855.7:c.634C>T	ENSP00000221855.3:p.Arg212Cys
ENST00000468156.1:n.366C>T
ENST00000585746.1:c.481C>T	ENSP00000467487.1:p.Arg161Cys
ENST00000585910.5:n.604C>T
ENST00000586868.1:c.*9C>T	ENSP00000468055.1:n.*9C>T
ENST00000588385.5:c.481C>T	ENSP00000467172.1:p.Arg161Cys
ENST00000589996.5:c.*9C>T	ENSP00000465447.1:n.*9C>T
NM_001281.2:c.634C>T	NP_001272.2:p.Arg212Cys
NM_001300971.1:c.481C>T	NP_001287900.1:p.Arg161Cys
NM_001300971.2:c.481C>T	NP_001287900.1:p.Arg161Cys
NR_155756.1:n.1664C>T
NM_001281.3:c.634C>T MANE Select	NP_001272.2:p.Arg212Cys
NM_001300971.3:c.481C>T	NP_001287900.1:p.Arg161Cys
NR_155756.2:n.1683C>T