Canonical Allele Identifier: CA370295685
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1277733310
gnomAD v2: 8-10470261-G-C
gnomAD v4: 8-10612751-G-C
COSMIC: COSM1673756
MyVariant Identifiers: chr8:g.10470261G>C (hg19) chr8:g.10612751G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612751G>C , CM000670.2:g.10612751G>C GRCh38
NC_000008.10:g.10470261G>C , CM000670.1:g.10470261G>C GRCh37
NC_000008.9:g.10507671G>C NCBI36
NG_028035.1:g.47357C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1347C>G MANE Select ENSP00000371923.3:p.Ser449Arg
ENST00000382483.3:c.1347C>G ENSP00000371923.3:p.Ser449Arg
NM_178857.5:c.1347C>G NP_849188.4:p.Ser449Arg
NM_178857.6:c.1347C>G MANE Select NP_849188.4:p.Ser449Arg
Search 100 bp 5'
Search 100 bp 3'