Canonical Allele Identifier: CA483558968
Gene: RB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.49033825G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459689G>C , CM000675.2:g.48459689G>C GRCh38
NC_000013.10:g.49033825G>C , CM000675.1:g.49033825G>C GRCh37
NC_000013.9:g.47931826G>C NCBI36
NG_009009.1:g.160943G>C , LRG_517:g.160943G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1962G>C MANE Select ENSP00000267163.4:p.Val654=
ENST00000643064.1:c.194+78246G>C
ENST00000650461.1:c.1962G>C ENSP00000497193.1:p.Val654=
ENST00000267163.4:c.1962G>C ENSP00000267163.4:p.Val654=
NM_000321.2:c.1962G>C , LRG_517t1:c.1962G>C NP_000312.2:p.Val654=
XM_011535171.1:c.1701G>C XP_011533473.1:p.Val567=
XM_011535171.2:c.1701G>C XP_011533473.1:p.Val567=
NM_000321.3:c.1962G>C MANE Select NP_000312.2:p.Val654=