Canonical Allele Identifier: CA415403151
Community Standard Title: NM_002074.5(GNB1):c.774C>T (p.Asp258=)
Gene: GNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1789195G>A , CM000663.2:g.1789195G>A GRCh38
NC_000001.10:g.1720634G>A , CM000663.1:g.1720634G>A GRCh37
NC_000001.9:g.1710494G>A NCBI36
NG_047052.1:g.106923C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002074.5:c.774C>T MANE Select NP_002065.1:p.Asp258=
ENST00000378609.9:c.774C>T MANE Select ENSP00000367872.3:p.Asp258=
NM_001282538.1:c.474C>T NP_001269467.1:p.Asp158=
NM_001282538.2:c.474C>T NP_001269467.1:p.Asp158=
NM_001282539.1:c.774C>T NP_001269468.1:p.Asp258=
NM_001282539.2:c.774C>T NP_001269468.1:p.Asp258=
NM_002074.4:c.774C>T NP_002065.1:p.Asp258=
ENST00000378609.8:c.774C>T ENSP00000367872.3:p.Asp258=
ENST00000439272.7:c.735C>T ENSP00000399741.3:p.Asp245=
ENST00000461893.5:n.1230C>T
ENST00000471354.1:n.1378C>T
ENST00000610897.4:c.774C>T ENSP00000481878.1:p.Asp258=
ENST00000615252.4:c.474C>T ENSP00000483532.1:p.Asp158=
ENST00000615252.5:c.474C>T ENSP00000483532.1:p.Asp158=
ENST00000703692.1:c.774C>T ENSP00000515427.1:p.Asp258=
ENST00000703693.1:c.774C>T ENSP00000515428.1:p.Asp258=
ENST00000703694.1:c.774C>T ENSP00000515429.1:p.Asp258=
ENST00000703695.1:c.572C>T ENSP00000515430.1:p.Thr191Ile
ENST00000703696.1:c.774C>T ENSP00000515431.1:p.Asp258=
ENST00000703697.1:c.774C>T ENSP00000515432.1:p.Asp258=
ENST00000703699.1:c.774C>T ENSP00000515433.1:p.Asp258=
ENST00000703700.1:c.774C>T ENSP00000515434.1:p.Asp258=
ENST00000703701.1:c.774C>T ENSP00000515435.1:p.Asp258=
ENST00000703702.1:c.774C>T ENSP00000515436.1:p.Asp258=
ENST00000703703.1:c.774C>T ENSP00000515437.1:p.Asp258=
ENST00000703704.1:c.774C>T ENSP00000515438.1:p.Asp258=
ENST00000703705.1:c.642C>T ENSP00000515439.1:p.Asp214=
ENST00000703706.1:c.774C>T ENSP00000515440.1:p.Asp258=
ENST00000703707.1:c.735C>T ENSP00000515441.1:p.Asp245=
ENST00000703708.1:c.774C>T ENSP00000515442.1:p.Asp258=
ENST00000703709.1:c.774C>T ENSP00000515443.1:p.Asp258=
ENST00000703710.1:c.774C>T ENSP00000515444.1:p.Asp258=
ENST00000703711.1:c.774C>T ENSP00000515445.1:p.Asp258=
XM_017001059.2:c.774C>T XP_016856548.1:p.Asp258=
XM_017001060.2:c.774C>T XP_016856549.1:p.Asp258=
XM_017001061.2:c.774C>T XP_016856550.1:p.Asp258=
XM_024446495.1:c.774C>T XP_024302263.1:p.Asp258=