Canonical Allele Identifier: CA2622979119

Gene: RB1

Linked Data

• gnomAD v4: 13-48348878-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348878C>T , CM000675.2:g.48348878C>T	GRCh38
NC_000013.10:g.48923014C>T , CM000675.1:g.48923014C>T	GRCh37
NC_000013.9:g.47821015C>T	NCBI36
NG_009009.1:g.50132C>T , LRG_517:g.50132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-78C>T MANE Select	ENSP00000267163.4:n.540-78C>T
ENST00000650461.1:c.540-78C>T	ENSP00000497193.1:n.540-78C>T
ENST00000267163.4:c.540-78C>T	ENSP00000267163.4:n.540-78C>T
ENST00000467505.5:c.138-11139C>T	ENSP00000434702.1:n.138-11139C>T
ENST00000525036.1:n.702-78C>T
NM_000321.2:c.540-78C>T , LRG_517t1:c.540-78C>T	NP_000312.2:n.540-78C>T
XM_011535171.1:c.279-78C>T	XP_011533473.1:n.279-78C>T
XM_011535171.2:c.279-78C>T	XP_011533473.1:n.279-78C>T
NM_000321.3:c.540-78C>T MANE Select	NP_000312.2:n.540-78C>T