Canonical Allele Identifier: CA10583159

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48453114A>C , CM000675.2:g.48453114A>C	GRCh38
NC_000013.10:g.49027250A>C , CM000675.1:g.49027250A>C	GRCh37
NC_000013.9:g.47925251A>C	NCBI36
NG_009009.1:g.154368A>C , LRG_517:g.154368A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.1814+3A>C MANE Select	NP_000312.2:n.1814+3A>C
ENST00000267163.6:c.1814+3A>C MANE Select	ENSP00000267163.4:n.1814+3A>C
NM_000321.2:c.1814+3A>C , LRG_517t1:c.1814+3A>C	NP_000312.2:n.1814+3A>C
ENST00000267163.4:c.1814+3A>C	ENSP00000267163.4:n.1814+3A>C
ENST00000480491.1:n.513+3A>C
ENST00000643064.1:c.194+71671A>C
ENST00000650461.1:c.1814+3A>C	ENSP00000497193.1:n.1814+3A>C
XM_011535171.1:c.1553+3A>C	XP_011533473.1:n.1553+3A>C
XM_011535171.2:c.1553+3A>C	XP_011533473.1:n.1553+3A>C