Canonical Allele Identifier: CA7734184

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90231133G>A , CM000677.2:g.90231133G>A	GRCh38
NC_000015.9:g.90774365G>A , CM000677.1:g.90774365G>A	GRCh37
NC_000015.8:g.88575369G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695870.1:n.2286C>T
ENST00000695871.1:n.700C>T
ENST00000695872.1:n.459C>T
ENST00000695873.1:n.607C>T
ENST00000328649.11:c.427C>T MANE Select	ENSP00000333873.6:p.Arg143Trp
ENST00000650306.1:c.-18C>T	ENSP00000497451.1:n.-18C>T
ENST00000328649.10:c.427C>T	ENSP00000333873.6:p.Arg143Trp
ENST00000612800.1:c.547C>T	ENSP00000479860.1:p.Arg183Trp
NM_001277764.1:c.547C>T	NP_001264693.1:p.Arg183Trp
NM_006384.3:c.427C>T	NP_006375.2:p.Arg143Trp
NR_102427.1:n.613C>T
NR_102428.1:n.479C>T
XM_006720375.1:c.427C>T	XP_006720438.1:p.Arg143Trp
XM_006720375.2:c.427C>T	XP_006720438.1:p.Arg143Trp
NM_006384.4:c.427C>T MANE Select	NP_006375.2:p.Arg143Trp
NM_001277764.2:c.547C>T	NP_001264693.1:p.Arg183Trp