Canonical Allele Identifier: CA7734247

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90231404T>C , CM000677.2:g.90231404T>C	GRCh38
NC_000015.9:g.90774636T>C , CM000677.1:g.90774636T>C	GRCh37
NC_000015.8:g.88575640T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006384.4:c.299A>G MANE Select	NP_006375.2:p.Asp100Gly
ENST00000328649.11:c.299A>G MANE Select	ENSP00000333873.6:p.Asp100Gly
NM_001277764.1:c.419A>G	NP_001264693.1:p.Asp140Gly
NM_001277764.2:c.419A>G	NP_001264693.1:p.Asp140Gly
NM_006384.3:c.299A>G	NP_006375.2:p.Asp100Gly
NR_102427.1:n.485A>G
NR_102428.1:n.351A>G
ENST00000328649.10:c.299A>G	ENSP00000333873.6:p.Asp100Gly
ENST00000612800.1:c.419A>G	ENSP00000479860.1:p.Asp140Gly
ENST00000650306.1:c.-146A>G	ENSP00000497451.1:n.-146A>G
ENST00000695870.1:n.2158A>G
ENST00000695871.1:n.572A>G
ENST00000695872.1:n.331A>G
ENST00000695873.1:n.336A>G
ENST00000695874.1:n.468A>G
XM_006720375.1:c.299A>G	XP_006720438.1:p.Asp100Gly
XM_006720375.2:c.299A>G	XP_006720438.1:p.Asp100Gly