Canonical Allele Identifier: CA1763389472
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622604T= , CM000670.2:g.10622604T= GRCh38
NC_000008.10:g.10480114T= , CM000670.1:g.10480114T= GRCh37
NC_000008.9:g.10517524T= NCBI36
NG_028035.1:g.37504A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.598A= MANE Select ENSP00000371923.3:p.Ser200=
ENST00000329335.3:n.848A=
ENST00000382483.3:c.598A= ENSP00000371923.3:p.Ser200=
NM_178857.5:c.598A= NP_849188.4:p.Ser200=
NM_178857.6:c.598A= MANE Select NP_849188.4:p.Ser200=