Canonical Allele Identifier: CA7734308

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90232286C>T , CM000677.2:g.90232286C>T	GRCh38
NC_000015.9:g.90775518C>T , CM000677.1:g.90775518C>T	GRCh37
NC_000015.8:g.88576522C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695870.1:n.1276G>A
ENST00000695872.1:n.160G>A
ENST00000695873.1:n.165G>A
ENST00000695874.1:n.297G>A
ENST00000695875.1:n.149G>A
ENST00000695876.1:n.119G>A
ENST00000328649.11:c.128G>A MANE Select	ENSP00000333873.6:p.Arg43Gln
ENST00000650306.1:c.-422G>A	ENSP00000497451.1:n.-422G>A
ENST00000328649.10:c.128G>A	ENSP00000333873.6:p.Arg43Gln
ENST00000612800.1:c.248G>A	ENSP00000479860.1:p.Arg83Gln
NM_001277764.1:c.248G>A	NP_001264693.1:p.Arg83Gln
NM_006384.3:c.128G>A	NP_006375.2:p.Arg43Gln
NR_102427.1:n.314G>A
NR_102428.1:n.180G>A
XM_006720375.1:c.128G>A	XP_006720438.1:p.Arg43Gln
XM_006720375.2:c.128G>A	XP_006720438.1:p.Arg43Gln
NM_006384.4:c.128G>A MANE Select	NP_006375.2:p.Arg43Gln
NM_001277764.2:c.248G>A	NP_001264693.1:p.Arg83Gln