Canonical Allele Identifier: CA1763389374
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1798077106

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622542C>T , CM000670.2:g.10622542C>T GRCh38
NC_000008.10:g.10480052C>T , CM000670.1:g.10480052C>T GRCh37
NC_000008.9:g.10517462C>T NCBI36
NG_028035.1:g.37566G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+51G>A MANE Select ENSP00000371923.3:n.609+51G>A
ENST00000329335.3:n.859+51G>A
ENST00000382483.3:c.609+51G>A ENSP00000371923.3:n.609+51G>A
NM_178857.5:c.609+51G>A NP_849188.4:n.609+51G>A
NM_178857.6:c.609+51G>A MANE Select NP_849188.4:n.609+51G>A