Canonical Allele Identifier: CA7734193

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90231170C>G , CM000677.2:g.90231170C>G	GRCh38
NC_000015.9:g.90774402C>G , CM000677.1:g.90774402C>G	GRCh37
NC_000015.8:g.88575406C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695870.1:n.2249G>C
ENST00000695871.1:n.663G>C
ENST00000695872.1:n.422G>C
ENST00000695873.1:n.570G>C
ENST00000328649.11:c.390G>C MANE Select	ENSP00000333873.6:p.Arg130=
ENST00000650306.1:c.-55G>C	ENSP00000497451.1:n.-55G>C
ENST00000328649.10:c.390G>C	ENSP00000333873.6:p.Arg130=
ENST00000612800.1:c.510G>C	ENSP00000479860.1:p.Arg170=
NM_001277764.1:c.510G>C	NP_001264693.1:p.Arg170=
NM_006384.3:c.390G>C	NP_006375.2:p.Arg130=
NR_102427.1:n.576G>C
NR_102428.1:n.442G>C
XM_006720375.1:c.390G>C	XP_006720438.1:p.Arg130=
XM_006720375.2:c.390G>C	XP_006720438.1:p.Arg130=
NM_006384.4:c.390G>C MANE Select	NP_006375.2:p.Arg130=
NM_001277764.2:c.510G>C	NP_001264693.1:p.Arg170=