Canonical Allele Identifier: CA383282062
Gene: NECTIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119677741C>A , CM000673.2:g.119677741C>A GRCh38
NC_000011.9:g.119548451C>A , CM000673.1:g.119548451C>A GRCh37
NC_000011.8:g.119053661C>A NCBI36
NG_013083.1:g.55985G>T
NG_013083.2:g.55985G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531468.2:c.547G>T ENSP00000513010.1:p.Val183Leu
ENST00000264025.8:c.547G>T MANE Select ENSP00000264025.3:p.Val183Leu
ENST00000264025.7:c.547G>T ENSP00000264025.3:p.Val183Leu
ENST00000340882.2:c.547G>T ENSP00000345289.2:p.Val183Leu
ENST00000341398.6:c.547G>T ENSP00000344974.2:p.Val183Leu
ENST00000524510.1:n.521G>T
NM_002855.4:c.547G>T NP_002846.3:p.Val183Leu
NM_203285.1:c.547G>T NP_976030.1:p.Val183Leu
NM_203286.1:c.547G>T NP_976031.1:p.Val183Leu
NM_002855.5:c.547G>T MANE Select NP_002846.3:p.Val183Leu
NM_203285.2:c.547G>T NP_976030.1:p.Val183Leu
NM_203286.2:c.547G>T NP_976031.1:p.Val183Leu