Canonical Allele Identifier: CA383282221
Community Standard Title: NM_002855.5(NECTIN1):c.472C>T (p.Arg158Ter)
Gene: NECTIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119677816G>A , CM000673.2:g.119677816G>A GRCh38
NC_000011.9:g.119548526G>A , CM000673.1:g.119548526G>A GRCh37
NC_000011.8:g.119053736G>A NCBI36
NG_013083.1:g.55910C>T
NG_013083.2:g.55910C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002855.5:c.472C>T MANE Select NP_002846.3:p.Arg158Ter
ENST00000264025.8:c.472C>T MANE Select ENSP00000264025.3:p.Arg158Ter
NM_002855.4:c.472C>T NP_002846.3:p.Arg158Ter
NM_203285.1:c.472C>T NP_976030.1:p.Arg158Ter
NM_203285.2:c.472C>T NP_976030.1:p.Arg158Ter
NM_203286.1:c.472C>T NP_976031.1:p.Arg158Ter
NM_203286.2:c.472C>T NP_976031.1:p.Arg158Ter
ENST00000264025.7:c.472C>T ENSP00000264025.3:p.Arg158Ter
ENST00000340882.2:c.472C>T ENSP00000345289.2:p.Arg158Ter
ENST00000341398.6:c.472C>T ENSP00000344974.2:p.Arg158Ter
ENST00000524510.1:n.446C>T
ENST00000531468.2:c.472C>T ENSP00000513010.1:p.Arg158Ter