Canonical Allele Identifier: CA7734294

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90232249G>A , CM000677.2:g.90232249G>A	GRCh38
NC_000015.9:g.90775481G>A , CM000677.1:g.90775481G>A	GRCh37
NC_000015.8:g.88576485G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695870.1:n.1313C>T
ENST00000695872.1:n.197C>T
ENST00000695873.1:n.202C>T
ENST00000695874.1:n.334C>T
ENST00000695875.1:n.186C>T
ENST00000695876.1:n.156C>T
ENST00000328649.11:c.165C>T MANE Select	ENSP00000333873.6:p.Phe55=
ENST00000650306.1:c.-385C>T	ENSP00000497451.1:n.-385C>T
ENST00000328649.10:c.165C>T	ENSP00000333873.6:p.Phe55=
ENST00000612800.1:c.285C>T	ENSP00000479860.1:p.Phe95=
NM_001277764.1:c.285C>T	NP_001264693.1:p.Phe95=
NM_006384.3:c.165C>T	NP_006375.2:p.Phe55=
NR_102427.1:n.351C>T
NR_102428.1:n.217C>T
XM_006720375.1:c.165C>T	XP_006720438.1:p.Phe55=
XM_006720375.2:c.165C>T	XP_006720438.1:p.Phe55=
NM_006384.4:c.165C>T MANE Select	NP_006375.2:p.Phe55=
NM_001277764.2:c.285C>T	NP_001264693.1:p.Phe95=