Canonical Allele Identifier: CA7734260

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90231489G>A , CM000677.2:g.90231489G>A	GRCh38
NC_000015.9:g.90774721G>A , CM000677.1:g.90774721G>A	GRCh37
NC_000015.8:g.88575725G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006384.4:c.214C>T MANE Select	NP_006375.2:p.Arg72Ter
ENST00000328649.11:c.214C>T MANE Select	ENSP00000333873.6:p.Arg72Ter
NM_001277764.1:c.334C>T	NP_001264693.1:p.Arg112Ter
NM_001277764.2:c.334C>T	NP_001264693.1:p.Arg112Ter
NM_006384.3:c.214C>T	NP_006375.2:p.Arg72Ter
NR_102427.1:n.400C>T
NR_102428.1:n.266C>T
ENST00000328649.10:c.214C>T	ENSP00000333873.6:p.Arg72Ter
ENST00000612800.1:c.334C>T	ENSP00000479860.1:p.Arg112Ter
ENST00000650306.1:c.-231C>T	ENSP00000497451.1:n.-231C>T
ENST00000695870.1:n.2073C>T
ENST00000695871.1:n.487C>T
ENST00000695872.1:n.246C>T
ENST00000695873.1:n.251C>T
ENST00000695874.1:n.383C>T
XM_006720375.1:c.214C>T	XP_006720438.1:p.Arg72Ter
XM_006720375.2:c.214C>T	XP_006720438.1:p.Arg72Ter