Canonical Allele Identifier: CA370295941

Gene: RP1L1

Linked Data

• ClinVar Variation Id: 2475607
• ClinVar RCV Id: RCV003208712
• gnomAD v4: 8-10612877-G-C
• MyVariant Identifiers: chr8:g.10470387G>C (hg19) ; chr8:g.10612877G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612877G>C , CM000670.2:g.10612877G>C	GRCh38
NC_000008.10:g.10470387G>C , CM000670.1:g.10470387G>C	GRCh37
NC_000008.9:g.10507797G>C	NCBI36
NG_028035.1:g.47231C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1221C>G MANE Select	ENSP00000371923.3:p.Ile407Met
ENST00000382483.3:c.1221C>G	ENSP00000371923.3:p.Ile407Met
NM_178857.5:c.1221C>G	NP_849188.4:p.Ile407Met
NM_178857.6:c.1221C>G MANE Select	NP_849188.4:p.Ile407Met