Canonical Allele Identifier: CA1763389199
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622458A= , CM000670.2:g.10622458A= GRCh38
NC_000008.10:g.10479968A= , CM000670.1:g.10479968A= GRCh37
NC_000008.9:g.10517378A= NCBI36
NG_028035.1:g.37650T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+135T= MANE Select ENSP00000371923.3:n.609+135T=
ENST00000329335.3:n.859+135T=
ENST00000382483.3:c.609+135T= ENSP00000371923.3:n.609+135T=
NM_178857.5:c.609+135T= NP_849188.4:n.609+135T=
NM_178857.6:c.609+135T= MANE Select NP_849188.4:n.609+135T=