Canonical Allele Identifier: CA370295212
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612501A>C , CM000670.2:g.10612501A>C GRCh38
NC_000008.10:g.10470011A>C , CM000670.1:g.10470011A>C GRCh37
NC_000008.9:g.10507421A>C NCBI36
NG_028035.1:g.47607T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1597T>G MANE Select ENSP00000371923.3:p.Ser533Ala
ENST00000382483.3:c.1597T>G ENSP00000371923.3:p.Ser533Ala
NM_178857.5:c.1597T>G NP_849188.4:p.Ser533Ala
NM_178857.6:c.1597T>G MANE Select NP_849188.4:p.Ser533Ala