Canonical Allele Identifier: CA1763389637
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1798081475
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622691dup , CM000670.2:g.10622691dup GRCh38
NC_000008.10:g.10480201dup , CM000670.1:g.10480201dup GRCh37
NC_000008.9:g.10517611dup NCBI36
NG_028035.1:g.37417dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.511dup MANE Select ENSP00000371923.3:p.Ser171LysfsTer6
ENST00000329335.3:n.761dup
ENST00000382483.3:c.511dup ENSP00000371923.3:p.Ser171LysfsTer6
NM_178857.5:c.511dup NP_849188.4:p.Ser171LysfsTer6
NM_178857.6:c.511dup MANE Select NP_849188.4:p.Ser171LysfsTer6
Search 100 bp 5'
Search 100 bp 3'