Canonical Allele Identifier: CA7734203

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90231203A>G , CM000677.2:g.90231203A>G	GRCh38
NC_000015.9:g.90774435A>G , CM000677.1:g.90774435A>G	GRCh37
NC_000015.8:g.88575439A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695870.1:n.2216T>C
ENST00000695871.1:n.630T>C
ENST00000695872.1:n.389T>C
ENST00000695873.1:n.537T>C
ENST00000695874.1:n.526T>C
ENST00000328649.11:c.357T>C MANE Select	ENSP00000333873.6:p.Asp119=
ENST00000650306.1:c.-88T>C	ENSP00000497451.1:n.-88T>C
ENST00000328649.10:c.357T>C	ENSP00000333873.6:p.Asp119=
ENST00000612800.1:c.477T>C	ENSP00000479860.1:p.Asp159=
NM_001277764.1:c.477T>C	NP_001264693.1:p.Asp159=
NM_006384.3:c.357T>C	NP_006375.2:p.Asp119=
NR_102427.1:n.543T>C
NR_102428.1:n.409T>C
XM_006720375.1:c.357T>C	XP_006720438.1:p.Asp119=
XM_006720375.2:c.357T>C	XP_006720438.1:p.Asp119=
NM_006384.4:c.357T>C MANE Select	NP_006375.2:p.Asp119=
NM_001277764.2:c.477T>C	NP_001264693.1:p.Asp159=