Canonical Allele Identifier: CA393817185

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90233705T>C , CM000677.2:g.90233705T>C	GRCh38
NC_000015.9:g.90776937T>C , CM000677.1:g.90776937T>C	GRCh37
NC_000015.8:g.88577941T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006384.4:c.52-2A>G MANE Select	NP_006375.2:n.52-2A>G
ENST00000328649.11:c.52-2A>G MANE Select	ENSP00000333873.6:n.52-2A>G
NM_001277764.1:c.52-2A>G	NP_001264693.1:n.52-2A>G
NM_001277764.2:c.52-2A>G	NP_001264693.1:n.52-2A>G
NM_006384.3:c.52-2A>G	NP_006375.2:n.52-2A>G
NR_102427.1:n.238-2A>G
NR_102428.1:n.104-2A>G
ENST00000328649.10:c.52-2A>G	ENSP00000333873.6:n.52-2A>G
ENST00000612800.1:c.52-2A>G	ENSP00000479860.1:n.52-2A>G
ENST00000650306.1:c.-498-2A>G	ENSP00000497451.1:n.-498-2A>G
ENST00000695872.1:n.84-2A>G
ENST00000695873.1:n.89-2A>G
ENST00000695874.1:n.126-2A>G
ENST00000695875.1:n.5A>G
ENST00000695876.1:n.43-2A>G
ENST00000695877.1:n.108-2A>G
XM_006720375.1:c.52-2A>G	XP_006720438.1:n.52-2A>G
XM_006720375.2:c.52-2A>G	XP_006720438.1:n.52-2A>G