Canonical Allele Identifier: CA2622985037

Gene: RB1

Linked Data

• gnomAD v4: 13-48459567-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459567G>T , CM000675.2:g.48459567G>T	GRCh38
NC_000013.10:g.49033703G>T , CM000675.1:g.49033703G>T	GRCh37
NC_000013.9:g.47931704G>T	NCBI36
NG_009009.1:g.160821G>T , LRG_517:g.160821G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1961-121G>T MANE Select	ENSP00000267163.4:n.1961-121G>T
ENST00000643064.1:c.194+78124G>T
ENST00000650461.1:c.1961-121G>T	ENSP00000497193.1:n.1961-121G>T
ENST00000267163.4:c.1961-121G>T	ENSP00000267163.4:n.1961-121G>T
NM_000321.2:c.1961-121G>T , LRG_517t1:c.1961-121G>T	NP_000312.2:n.1961-121G>T
XM_011535171.1:c.1700-121G>T	XP_011533473.1:n.1700-121G>T
XM_011535171.2:c.1700-121G>T	XP_011533473.1:n.1700-121G>T
NM_000321.3:c.1961-121G>T MANE Select	NP_000312.2:n.1961-121G>T