Canonical Allele Identifier: CA7734299

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90232265C>T , CM000677.2:g.90232265C>T	GRCh38
NC_000015.9:g.90775497C>T , CM000677.1:g.90775497C>T	GRCh37
NC_000015.8:g.88576501C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695870.1:n.1297G>A
ENST00000695872.1:n.181G>A
ENST00000695873.1:n.186G>A
ENST00000695874.1:n.318G>A
ENST00000695875.1:n.170G>A
ENST00000695876.1:n.140G>A
ENST00000328649.11:c.149G>A MANE Select	ENSP00000333873.6:p.Arg50Gln
ENST00000650306.1:c.-401G>A	ENSP00000497451.1:n.-401G>A
ENST00000328649.10:c.149G>A	ENSP00000333873.6:p.Arg50Gln
ENST00000612800.1:c.269G>A	ENSP00000479860.1:p.Arg90Gln
NM_001277764.1:c.269G>A	NP_001264693.1:p.Arg90Gln
NM_006384.3:c.149G>A	NP_006375.2:p.Arg50Gln
NR_102427.1:n.335G>A
NR_102428.1:n.201G>A
XM_006720375.1:c.149G>A	XP_006720438.1:p.Arg50Gln
XM_006720375.2:c.149G>A	XP_006720438.1:p.Arg50Gln
NM_006384.4:c.149G>A MANE Select	NP_006375.2:p.Arg50Gln
NM_001277764.2:c.269G>A	NP_001264693.1:p.Arg90Gln