Canonical Allele Identifier: CA370295271

Gene: RP1L1

Linked Data

• dbSNP Id: rs1406326254
• gnomAD v2: 8-10470043-G-A
• gnomAD v4: 8-10612533-G-A
• MyVariant Identifiers: chr8:g.10470043G>A (hg19) ; chr8:g.10612533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612533G>A , CM000670.2:g.10612533G>A	GRCh38
NC_000008.10:g.10470043G>A , CM000670.1:g.10470043G>A	GRCh37
NC_000008.9:g.10507453G>A	NCBI36
NG_028035.1:g.47575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1565C>T MANE Select	ENSP00000371923.3:p.Thr522Ile
ENST00000382483.3:c.1565C>T	ENSP00000371923.3:p.Thr522Ile
NM_178857.5:c.1565C>T	NP_849188.4:p.Thr522Ile
NM_178857.6:c.1565C>T MANE Select	NP_849188.4:p.Thr522Ile