Canonical Allele Identifier: CA6322048

Gene: NECTIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119677692C>T , CM000673.2:g.119677692C>T	GRCh38
NC_000011.9:g.119548402C>T , CM000673.1:g.119548402C>T	GRCh37
NC_000011.8:g.119053612C>T	NCBI36
NG_013083.1:g.56034G>A
NG_013083.2:g.56034G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002855.5:c.596G>A MANE Select	NP_002846.3:p.Arg199Gln
ENST00000264025.8:c.596G>A MANE Select	ENSP00000264025.3:p.Arg199Gln
NM_002855.4:c.596G>A	NP_002846.3:p.Arg199Gln
NM_203285.1:c.596G>A	NP_976030.1:p.Arg199Gln
NM_203285.2:c.596G>A	NP_976030.1:p.Arg199Gln
NM_203286.1:c.596G>A	NP_976031.1:p.Arg199Gln
NM_203286.2:c.596G>A	NP_976031.1:p.Arg199Gln
ENST00000264025.7:c.596G>A	ENSP00000264025.3:p.Arg199Gln
ENST00000340882.2:c.596G>A	ENSP00000345289.2:p.Arg199Gln
ENST00000341398.6:c.596G>A	ENSP00000344974.2:p.Arg199Gln
ENST00000524510.1:n.570G>A
ENST00000531468.2:c.596G>A	ENSP00000513010.1:p.Arg199Gln