Canonical Allele Identifier: CA1763379051
Gene: RP1L1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612808C= , CM000670.2:g.10612808C= GRCh38
NC_000008.10:g.10470318C= , CM000670.1:g.10470318C= GRCh37
NC_000008.9:g.10507728C= NCBI36
NG_028035.1:g.47300G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1290G= MANE Select ENSP00000371923.3:p.Gln430=
ENST00000382483.3:c.1290G= ENSP00000371923.3:p.Gln430=
NM_178857.5:c.1290G= NP_849188.4:p.Gln430=
NM_178857.6:c.1290G= MANE Select NP_849188.4:p.Gln430=
Search 100 bp 5'
Search 100 bp 3'