Canonical Allele Identifier: CA1763378602
Gene: RP1L1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612499C= , CM000670.2:g.10612499C= GRCh38
NC_000008.10:g.10470009C= , CM000670.1:g.10470009C= GRCh37
NC_000008.9:g.10507419C= NCBI36
NG_028035.1:g.47609G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1599G= MANE Select ENSP00000371923.3:p.Ser533=
ENST00000382483.3:c.1599G= ENSP00000371923.3:p.Ser533=
NM_178857.5:c.1599G= NP_849188.4:p.Ser533=
NM_178857.6:c.1599G= MANE Select NP_849188.4:p.Ser533=
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