Canonical Allele Identifier: CA4625618

Gene: RP1L1

Linked Data

• dbSNP Id: rs746241889
• ExAC: 8:10480092 C / T
• gnomAD v2: 8-10480092-C-T
• gnomAD v4: 8-10622582-C-T
• MyVariant Identifiers: chr8:g.10480092C>T (hg19) ; chr8:g.10622582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622582C>T , CM000670.2:g.10622582C>T	GRCh38
NC_000008.10:g.10480092C>T , CM000670.1:g.10480092C>T	GRCh37
NC_000008.9:g.10517502C>T	NCBI36
NG_028035.1:g.37526G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.609+11G>A MANE Select	ENSP00000371923.3:n.609+11G>A
ENST00000329335.3:n.859+11G>A
ENST00000382483.3:c.609+11G>A	ENSP00000371923.3:n.609+11G>A
NM_178857.5:c.609+11G>A	NP_849188.4:n.609+11G>A
NM_178857.6:c.609+11G>A MANE Select	NP_849188.4:n.609+11G>A