Canonical Allele Identifier: CA10624492

Gene: RP1L1

Linked Data

• ClinVar Variation Id: 361192
• ClinVar RCV Id: RCV000261286
• dbSNP Id: rs146542491
• gnomAD v2: 8-10464098-A-G
• gnomAD v3: 8-10606588-A-G
• gnomAD v4: 8-10606588-A-G
• MyVariant Identifiers: chr8:g.10464098A>G (hg19) ; chr8:g.10606588A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10606588A>G , CM000670.2:g.10606588A>G	GRCh38
NC_000008.10:g.10464098A>G , CM000670.1:g.10464098A>G	GRCh37
NC_000008.9:g.10501508A>G	NCBI36
NG_028035.1:g.53520T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.*307T>C MANE Select	ENSP00000371923.3:n.*307T>C
ENST00000382483.3:c.*307T>C	ENSP00000371923.3:n.*307T>C
NM_178857.5:c.*307T>C	NP_849188.4:n.*307T>C
NM_178857.6:c.*307T>C MANE Select	NP_849188.4:n.*307T>C