Canonical Allele Identifier: CA4751646
Gene: RP1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.54627014A>C
GRCh37 chr8:g.55539574A>C
Revel Score:
ENST00000220676 (MANE Select) 0.028
gnomAD v2:
8:55539574 A / C
gnomAD v3:
8:54627014 A / C
gnomAD v4:
chr8-54627014-A-C
Joint Max Group AF 0.00673376 (AFR)
Genomes Max Group AF 0.00684715 (AFR)
Exomes Max Group AF 0.00614201 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627014A>C , CM000670.2:g.54627014A>C GRCh38
NC_000008.10:g.55539574A>C , CM000670.1:g.55539574A>C GRCh37
NC_000008.9:g.55702127A>C NCBI36
NG_009840.1:g.15948A>C
NG_009840.2:g.15948A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.3132A>C MANE Select ENSP00000220676.1:p.Lys1044Asn
ENST00000636932.1:c.787+4726A>C ENSP00000489857.1:n.787+4726A>C
ENST00000637698.1:c.787+4726A>C ENSP00000490104.1:n.787+4726A>C
ENST00000220676.1:c.3132A>C ENSP00000220676.1:p.Lys1044Asn
NM_006269.1:c.3132A>C NP_006260.1:p.Lys1044Asn
XM_017013721.1:c.3153A>C XP_016869210.1:p.Lys1051Asn
XM_017013722.1:c.3132A>C XP_016869211.1:p.Lys1044Asn
NM_001375654.1:c.787+4726A>C NP_001362583.1:n.787+4726A>C
NM_006269.2:c.3132A>C MANE Select NP_006260.1:p.Lys1044Asn
Search 100 bp 5'
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