Canonical Allele Identifier: CA370295797

Gene: RP1L1

Linked Data

• dbSNP Id: rs1373902688
• gnomAD v2: 8-10470317-G-C
• gnomAD v4: 8-10612807-G-C
• MyVariant Identifiers: chr8:g.10470317G>C (hg19) ; chr8:g.10612807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612807G>C , CM000670.2:g.10612807G>C	GRCh38
NC_000008.10:g.10470317G>C , CM000670.1:g.10470317G>C	GRCh37
NC_000008.9:g.10507727G>C	NCBI36
NG_028035.1:g.47301C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1291C>G MANE Select	ENSP00000371923.3:p.His431Asp
ENST00000382483.3:c.1291C>G	ENSP00000371923.3:p.His431Asp
NM_178857.5:c.1291C>G	NP_849188.4:p.His431Asp
NM_178857.6:c.1291C>G MANE Select	NP_849188.4:p.His431Asp