Canonical Allele Identifier: CA383281966
Gene: NECTIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119677696T>G , CM000673.2:g.119677696T>G GRCh38
NC_000011.9:g.119548406T>G , CM000673.1:g.119548406T>G GRCh37
NC_000011.8:g.119053616T>G NCBI36
NG_013083.1:g.56030A>C
NG_013083.2:g.56030A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531468.2:c.592A>C ENSP00000513010.1:p.Ile198Leu
ENST00000264025.8:c.592A>C MANE Select ENSP00000264025.3:p.Ile198Leu
ENST00000264025.7:c.592A>C ENSP00000264025.3:p.Ile198Leu
ENST00000340882.2:c.592A>C ENSP00000345289.2:p.Ile198Leu
ENST00000341398.6:c.592A>C ENSP00000344974.2:p.Ile198Leu
ENST00000524510.1:n.566A>C
NM_002855.4:c.592A>C NP_002846.3:p.Ile198Leu
NM_203285.1:c.592A>C NP_976030.1:p.Ile198Leu
NM_203286.1:c.592A>C NP_976031.1:p.Ile198Leu
NM_002855.5:c.592A>C MANE Select NP_002846.3:p.Ile198Leu
NM_203285.2:c.592A>C NP_976030.1:p.Ile198Leu
NM_203286.2:c.592A>C NP_976031.1:p.Ile198Leu