Canonical Allele Identifier: CA370987444
Gene: RP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54621582G>T , CM000670.2:g.54621582G>T GRCh38
NC_000008.10:g.55534142G>T , CM000670.1:g.55534142G>T GRCh37
NC_000008.9:g.55696695G>T NCBI36
NG_009840.1:g.10516G>T
NG_009840.2:g.10516G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.615+1G>T MANE Select ENSP00000220676.1:n.615+1G>T
ENST00000636932.1:c.615+1G>T ENSP00000489857.1:n.615+1G>T
ENST00000637698.1:c.615+1G>T ENSP00000490104.1:n.615+1G>T
ENST00000220676.1:c.615+1G>T ENSP00000220676.1:n.615+1G>T
NM_006269.1:c.615+1G>T NP_006260.1:n.615+1G>T
XM_017013721.1:c.636+1G>T XP_016869210.1:n.636+1G>T
XM_017013722.1:c.615+1G>T XP_016869211.1:n.615+1G>T
NM_001375654.1:c.615+1G>T NP_001362583.1:n.615+1G>T
NM_006269.2:c.615+1G>T MANE Select NP_006260.1:n.615+1G>T
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