Canonical Allele Identifier: CA273802871
Community Standard Title: NM_006383.4(CIB2):c.543-136C>T
Gene: CIB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78105468G>A , CM000677.2:g.78105468G>A GRCh38
NC_000015.9:g.78397810G>A , CM000677.1:g.78397810G>A GRCh37
NC_000015.8:g.76184865G>A NCBI36
NG_033006.1:g.31068C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006383.4:c.543-136C>T MANE Select NP_006374.1:n.543-136C>T
ENST00000258930.8:c.543-136C>T MANE Select ENSP00000258930.3:n.543-136C>T
NM_001271888.1:c.414-136C>T NP_001258817.1:n.414-136C>T
NM_001271888.2:c.414-136C>T NP_001258817.1:n.414-136C>T
NM_001271889.1:c.396-136C>T NP_001258818.1:n.396-136C>T
NM_001271889.2:c.396-136C>T NP_001258818.1:n.396-136C>T
NM_001301224.1:c.558-136C>T NP_001288153.1:n.558-136C>T
NM_001301224.2:c.558-136C>T NP_001288153.1:n.558-136C>T
NM_006383.3:c.543-136C>T NP_006374.1:n.543-136C>T
NR_125435.1:n.751-136C>T
NR_125435.2:n.751-136C>T
ENST00000258930.7:c.543-136C>T ENSP00000258930.3:n.543-136C>T
ENST00000539011.5:c.414-136C>T ENSP00000442459.1:n.414-136C>T
ENST00000557818.1:c.525-136C>T ENSP00000453654.1:n.525-136C>T
ENST00000557846.5:c.396-136C>T ENSP00000453488.1:n.396-136C>T
ENST00000557917.5:c.*152-136C>T ENSP00000453963.1:n.*152-136C>T
ENST00000561190.5:c.347-136C>T ENSP00000453256.1:n.347-136C>T
ENST00000643268.1:c.559-136C>T ENSP00000494155.1:n.559-136C>T
XM_005254126.2:c.*180C>T XP_005254183.1:n.*180C>T
XM_005254126.3:c.*180C>T XP_005254183.1:n.*180C>T
XM_006720374.2:c.414-136C>T XP_006720437.1:n.414-136C>T
XM_011521161.1:c.*180C>T XP_011519463.1:n.*180C>T
XM_011521161.2:c.*180C>T XP_011519463.1:n.*180C>T
XR_001751051.1:n.1431-136C>T