Canonical Allele Identifier: CA7734171
Community Standard Title: NM_006384.4(CIB1):c.465+1G>A
Gene: CIB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90231094C>T , CM000677.2:g.90231094C>T GRCh38
NC_000015.9:g.90774326C>T , CM000677.1:g.90774326C>T GRCh37
NC_000015.8:g.88575330C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006384.4:c.465+1G>A MANE Select NP_006375.2:n.465+1G>A
ENST00000328649.11:c.465+1G>A MANE Select ENSP00000333873.6:n.465+1G>A
NM_001277764.1:c.585+1G>A NP_001264693.1:n.585+1G>A
NM_001277764.2:c.585+1G>A NP_001264693.1:n.585+1G>A
NM_006384.3:c.465+1G>A NP_006375.2:n.465+1G>A
NR_102427.1:n.651+1G>A
NR_102428.1:n.517+1G>A
ENST00000328649.10:c.465+1G>A ENSP00000333873.6:n.465+1G>A
ENST00000612800.1:c.585+1G>A ENSP00000479860.1:n.585+1G>A
ENST00000650306.1:c.21+1G>A ENSP00000497451.1:n.21+1G>A
ENST00000695870.1:n.2325G>A
ENST00000695871.1:n.738+1G>A
ENST00000695872.1:n.498G>A
ENST00000695873.1:n.645+1G>A
XM_006720375.1:c.465+1G>A XP_006720438.1:n.465+1G>A
XM_006720375.2:c.465+1G>A XP_006720438.1:n.465+1G>A