Canonical Allele Identifier: CA1763389319

Gene: RP1L1

Linked Data

• dbSNP Id: rs1798076418
• gnomAD v4: 8-10622493-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622493A>G , CM000670.2:g.10622493A>G	GRCh38
NC_000008.10:g.10480003A>G , CM000670.1:g.10480003A>G	GRCh37
NC_000008.9:g.10517413A>G	NCBI36
NG_028035.1:g.37615T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.609+100T>C MANE Select	ENSP00000371923.3:n.609+100T>C
ENST00000329335.3:n.859+100T>C
ENST00000382483.3:c.609+100T>C	ENSP00000371923.3:n.609+100T>C
NM_178857.5:c.609+100T>C	NP_849188.4:n.609+100T>C
NM_178857.6:c.609+100T>C MANE Select	NP_849188.4:n.609+100T>C