Canonical Allele Identifier: CA370280054
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs190549596
MyVariant Identifiers: chr8:g.10465721A>G (hg19) chr8:g.10608211A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608211A>G , CM000670.2:g.10608211A>G GRCh38
NC_000008.10:g.10465721A>G , CM000670.1:g.10465721A>G GRCh37
NC_000008.9:g.10503131A>G NCBI36
NG_028035.1:g.51897T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5887T>C MANE Select ENSP00000371923.3:p.Ser1963Pro
ENST00000382483.3:c.5887T>C ENSP00000371923.3:p.Ser1963Pro
NM_178857.5:c.5887T>C NP_849188.4:p.Ser1963Pro
NM_178857.6:c.5887T>C MANE Select NP_849188.4:p.Ser1963Pro
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Search 100 bp 3'