Canonical Allele Identifier: CA274660057

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90231466T>C , CM000677.2:g.90231466T>C	GRCh38
NC_000015.9:g.90774698T>C , CM000677.1:g.90774698T>C	GRCh37
NC_000015.8:g.88575702T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006384.4:c.237A>G MANE Select	NP_006375.2:p.Thr79=
ENST00000328649.11:c.237A>G MANE Select	ENSP00000333873.6:p.Thr79=
NM_001277764.1:c.357A>G	NP_001264693.1:p.Thr119=
NM_001277764.2:c.357A>G	NP_001264693.1:p.Thr119=
NM_006384.3:c.237A>G	NP_006375.2:p.Thr79=
NR_102427.1:n.423A>G
NR_102428.1:n.289A>G
ENST00000328649.10:c.237A>G	ENSP00000333873.6:p.Thr79=
ENST00000612800.1:c.357A>G	ENSP00000479860.1:p.Thr119=
ENST00000650306.1:c.-208A>G	ENSP00000497451.1:n.-208A>G
ENST00000695870.1:n.2096A>G
ENST00000695871.1:n.510A>G
ENST00000695872.1:n.269A>G
ENST00000695873.1:n.274A>G
ENST00000695874.1:n.406A>G
XM_006720375.1:c.237A>G	XP_006720438.1:p.Thr79=
XM_006720375.2:c.237A>G	XP_006720438.1:p.Thr79=