Canonical Allele Identifier: CA1763389194
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622454C= , CM000670.2:g.10622454C= GRCh38
NC_000008.10:g.10479964C= , CM000670.1:g.10479964C= GRCh37
NC_000008.9:g.10517374C= NCBI36
NG_028035.1:g.37654G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+139G= MANE Select ENSP00000371923.3:n.609+139G=
ENST00000329335.3:n.859+139G=
ENST00000382483.3:c.609+139G= ENSP00000371923.3:n.609+139G=
NM_178857.5:c.609+139G= NP_849188.4:n.609+139G=
NM_178857.6:c.609+139G= MANE Select NP_849188.4:n.609+139G=