Canonical Allele Identifier: CA393813502

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90230950A>T , CM000677.2:g.90230950A>T	GRCh38
NC_000015.9:g.90774182A>T , CM000677.1:g.90774182A>T	GRCh37
NC_000015.8:g.88575186A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695870.1:n.2469T>A
ENST00000695871.1:n.811T>A
ENST00000695872.1:n.642T>A
ENST00000328649.11:c.538T>A MANE Select	ENSP00000333873.6:p.Ser180Thr
ENST00000650306.1:c.94T>A	ENSP00000497451.1:p.Ser32Thr
ENST00000328649.10:c.538T>A	ENSP00000333873.6:p.Ser180Thr
ENST00000612800.1:c.658T>A	ENSP00000479860.1:p.Ser220Thr
NM_001277764.1:c.658T>A	NP_001264693.1:p.Ser220Thr
NM_006384.3:c.538T>A	NP_006375.2:p.Ser180Thr
NR_102427.1:n.724T>A
NR_102428.1:n.590T>A
XM_006720375.1:c.538T>A	XP_006720438.1:p.Ser180Thr
XM_006720375.2:c.538T>A	XP_006720438.1:p.Ser180Thr
NM_006384.4:c.538T>A MANE Select	NP_006375.2:p.Ser180Thr
NM_001277764.2:c.658T>A	NP_001264693.1:p.Ser220Thr