Canonical Allele Identifier: CA370981708

Gene: RP1

Linked Data

• dbSNP Id: rs562213663
• gnomAD v4: 8-54628098-A-C
• MyVariant Identifiers: chr8:g.55540658A>C (hg19) ; chr8:g.54628098A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628098A>C , CM000670.2:g.54628098A>C	GRCh38
NC_000008.10:g.55540658A>C , CM000670.1:g.55540658A>C	GRCh37
NC_000008.9:g.55703211A>C	NCBI36
NG_009840.1:g.17032A>C
NG_009840.2:g.17032A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.4216A>C MANE Select	ENSP00000220676.1:p.Lys1406Gln
ENST00000636932.1:c.787+5810A>C	ENSP00000489857.1:n.787+5810A>C
ENST00000637698.1:c.787+5810A>C	ENSP00000490104.1:n.787+5810A>C
ENST00000220676.1:c.4216A>C	ENSP00000220676.1:p.Lys1406Gln
NM_006269.1:c.4216A>C	NP_006260.1:p.Lys1406Gln
XM_017013721.1:c.4237A>C	XP_016869210.1:p.Lys1413Gln
XM_017013722.1:c.4216A>C	XP_016869211.1:p.Lys1406Gln
NM_001375654.1:c.787+5810A>C	NP_001362583.1:n.787+5810A>C
NM_006269.2:c.4216A>C MANE Select	NP_006260.1:p.Lys1406Gln