Canonical Allele Identifier: CA393813867

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90231135G>C , CM000677.2:g.90231135G>C	GRCh38
NC_000015.9:g.90774367G>C , CM000677.1:g.90774367G>C	GRCh37
NC_000015.8:g.88575371G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695870.1:n.2284C>G
ENST00000695871.1:n.698C>G
ENST00000695872.1:n.457C>G
ENST00000695873.1:n.605C>G
ENST00000328649.11:c.425C>G MANE Select	ENSP00000333873.6:p.Thr142Arg
ENST00000650306.1:c.-20C>G	ENSP00000497451.1:n.-20C>G
ENST00000328649.10:c.425C>G	ENSP00000333873.6:p.Thr142Arg
ENST00000612800.1:c.545C>G	ENSP00000479860.1:p.Thr182Arg
NM_001277764.1:c.545C>G	NP_001264693.1:p.Thr182Arg
NM_006384.3:c.425C>G	NP_006375.2:p.Thr142Arg
NR_102427.1:n.611C>G
NR_102428.1:n.477C>G
XM_006720375.1:c.425C>G	XP_006720438.1:p.Thr142Arg
XM_006720375.2:c.425C>G	XP_006720438.1:p.Thr142Arg
NM_006384.4:c.425C>G MANE Select	NP_006375.2:p.Thr142Arg
NM_001277764.2:c.545C>G	NP_001264693.1:p.Thr182Arg