Canonical Allele Identifier: CA4625148
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1284611
ClinVar RCV Id: RCV001699680 RCV001727942
dbSNP Id: rs371771522
ExAC: 8:10470099 G / A
gnomAD v2: 8-10470099-G-A
gnomAD v3: 8-10612589-G-A
gnomAD v4: 8-10612589-G-A
MyVariant Identifiers: chr8:g.10470099G>A (hg19) chr8:g.10612589G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612589G>A , CM000670.2:g.10612589G>A GRCh38
NC_000008.10:g.10470099G>A , CM000670.1:g.10470099G>A GRCh37
NC_000008.9:g.10507509G>A NCBI36
NG_028035.1:g.47519C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1509C>T MANE Select ENSP00000371923.3:p.Pro503=
ENST00000382483.3:c.1509C>T ENSP00000371923.3:p.Pro503=
NM_178857.5:c.1509C>T NP_849188.4:p.Pro503=
NM_178857.6:c.1509C>T MANE Select NP_849188.4:p.Pro503=
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Search 100 bp 3'