Canonical Allele Identifier: CA7734332

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90232362C>A , CM000677.2:g.90232362C>A	GRCh38
NC_000015.9:g.90775594C>A , CM000677.1:g.90775594C>A	GRCh37
NC_000015.8:g.88576598C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006384.4:c.87-35G>T MANE Select	NP_006375.2:n.87-35G>T
ENST00000328649.11:c.87-35G>T MANE Select	ENSP00000333873.6:n.87-35G>T
NM_001277764.1:c.172G>T	NP_001264693.1:p.Ala58Ser
NM_001277764.2:c.172G>T	NP_001264693.1:p.Ala58Ser
NM_006384.3:c.87-35G>T	NP_006375.2:n.87-35G>T
NR_102427.1:n.273-35G>T
NR_102428.1:n.139-35G>T
ENST00000328649.10:c.87-35G>T	ENSP00000333873.6:n.87-35G>T
ENST00000612800.1:c.172G>T	ENSP00000479860.1:p.Ala58Ser
ENST00000650306.1:c.-463-35G>T	ENSP00000497451.1:n.-463-35G>T
ENST00000695870.1:n.1200G>T
ENST00000695872.1:n.119-35G>T
ENST00000695873.1:n.124-35G>T
ENST00000695874.1:n.256-35G>T
ENST00000695875.1:n.108-35G>T
ENST00000695876.1:n.78-35G>T
XM_006720375.1:c.87-35G>T	XP_006720438.1:n.87-35G>T
XM_006720375.2:c.87-35G>T	XP_006720438.1:n.87-35G>T