Canonical Allele Identifier: CA415403076
Community Standard Title: NM_002074.5(GNB1):c.831C>T (p.Ser277=)
Gene: GNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1789138G>A , CM000663.2:g.1789138G>A GRCh38
NC_000001.10:g.1720577G>A , CM000663.1:g.1720577G>A GRCh37
NC_000001.9:g.1710437G>A NCBI36
NG_047052.1:g.106980C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002074.5:c.831C>T MANE Select NP_002065.1:p.Ser277=
ENST00000378609.9:c.831C>T MANE Select ENSP00000367872.3:p.Ser277=
NM_001282538.1:c.531C>T NP_001269467.1:p.Ser177=
NM_001282538.2:c.531C>T NP_001269467.1:p.Ser177=
NM_001282539.1:c.831C>T NP_001269468.1:p.Ser277=
NM_001282539.2:c.831C>T NP_001269468.1:p.Ser277=
NM_002074.4:c.831C>T NP_002065.1:p.Ser277=
ENST00000378609.8:c.831C>T ENSP00000367872.3:p.Ser277=
ENST00000439272.7:c.792C>T ENSP00000399741.3:p.Ser264=
ENST00000461893.5:n.1287C>T
ENST00000471354.1:n.1435C>T
ENST00000610897.4:c.831C>T ENSP00000481878.1:p.Ser277=
ENST00000615252.4:c.531C>T ENSP00000483532.1:p.Ser177=
ENST00000615252.5:c.531C>T ENSP00000483532.1:p.Ser177=
ENST00000703692.1:c.831C>T ENSP00000515427.1:p.Ser277=
ENST00000703693.1:c.831C>T ENSP00000515428.1:p.Ser277=
ENST00000703694.1:c.831C>T ENSP00000515429.1:p.Ser277=
ENST00000703695.1:c.*44C>T ENSP00000515430.1:n.*44C>T
ENST00000703696.1:c.831C>T ENSP00000515431.1:p.Ser277=
ENST00000703697.1:c.831C>T ENSP00000515432.1:p.Ser277=
ENST00000703699.1:c.831C>T ENSP00000515433.1:p.Ser277=
ENST00000703700.1:c.831C>T ENSP00000515434.1:p.Ser277=
ENST00000703701.1:c.831C>T ENSP00000515435.1:p.Ser277=
ENST00000703702.1:c.831C>T ENSP00000515436.1:p.Ser277=
ENST00000703703.1:c.831C>T ENSP00000515437.1:p.Ser277=
ENST00000703704.1:c.831C>T ENSP00000515438.1:p.Ser277=
ENST00000703705.1:c.699C>T ENSP00000515439.1:p.Ser233=
ENST00000703706.1:c.831C>T ENSP00000515440.1:p.Ser277=
ENST00000703707.1:c.792C>T ENSP00000515441.1:p.Ser264=
ENST00000703708.1:c.831C>T ENSP00000515442.1:p.Ser277=
ENST00000703709.1:c.831C>T ENSP00000515443.1:p.Ser277=
ENST00000703710.1:c.831C>T ENSP00000515444.1:p.Ser277=
ENST00000703711.1:c.831C>T ENSP00000515445.1:p.Ser277=
XM_017001059.2:c.831C>T XP_016856548.1:p.Ser277=
XM_017001060.2:c.831C>T XP_016856549.1:p.Ser277=
XM_017001061.2:c.831C>T XP_016856550.1:p.Ser277=
XM_024446495.1:c.831C>T XP_024302263.1:p.Ser277=