Canonical Allele Identifier: CA7734243

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90231394C>T , CM000677.2:g.90231394C>T	GRCh38
NC_000015.9:g.90774626C>T , CM000677.1:g.90774626C>T	GRCh37
NC_000015.8:g.88575630C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695870.1:n.2168G>A
ENST00000695871.1:n.582G>A
ENST00000695872.1:n.341G>A
ENST00000695873.1:n.346G>A
ENST00000695874.1:n.478G>A
ENST00000328649.11:c.309G>A MANE Select	ENSP00000333873.6:p.Thr103=
ENST00000650306.1:c.-136G>A	ENSP00000497451.1:n.-136G>A
ENST00000328649.10:c.309G>A	ENSP00000333873.6:p.Thr103=
ENST00000612800.1:c.429G>A	ENSP00000479860.1:p.Thr143=
NM_001277764.1:c.429G>A	NP_001264693.1:p.Thr143=
NM_006384.3:c.309G>A	NP_006375.2:p.Thr103=
NR_102427.1:n.495G>A
NR_102428.1:n.361G>A
XM_006720375.1:c.309G>A	XP_006720438.1:p.Thr103=
XM_006720375.2:c.309G>A	XP_006720438.1:p.Thr103=
NM_006384.4:c.309G>A MANE Select	NP_006375.2:p.Thr103=
NM_001277764.2:c.429G>A	NP_001264693.1:p.Thr143=