Canonical Allele Identifier: CA027779
Community Standard Title: NM_000321.3(RB1):c.1180G>A (p.Asp394Asn)
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48373457G>A , CM000675.2:g.48373457G>A GRCh38
NC_000013.10:g.48947593G>A , CM000675.1:g.48947593G>A GRCh37
NC_000013.9:g.47845594G>A NCBI36
NG_009009.1:g.74711G>A , LRG_517:g.74711G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000321.3:c.1180G>A MANE Select NP_000312.2:p.Asp394Asn
ENST00000267163.6:c.1180G>A MANE Select ENSP00000267163.4:p.Asp394Asn
NM_000321.2:c.1180G>A , LRG_517t1:c.1180G>A NP_000312.2:p.Asp394Asn
ENST00000267163.4:c.1180G>A ENSP00000267163.4:p.Asp394Asn
ENST00000650461.1:c.1180G>A ENSP00000497193.1:p.Asp394Asn
XM_011535171.1:c.919G>A XP_011533473.1:p.Asp307Asn
XM_011535171.2:c.919G>A XP_011533473.1:p.Asp307Asn
XR_002957522.1:n.121+703C>T
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