Canonical Allele Identifier: CA4625152
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs774365484
ExAC: 8:10470114 G / C
gnomAD v2: 8-10470114-G-C
gnomAD v3: 8-10612604-G-C
gnomAD v4: 8-10612604-G-C
MyVariant Identifiers: chr8:g.10470114G>C (hg19) chr8:g.10612604G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612604G>C , CM000670.2:g.10612604G>C GRCh38
NC_000008.10:g.10470114G>C , CM000670.1:g.10470114G>C GRCh37
NC_000008.9:g.10507524G>C NCBI36
NG_028035.1:g.47504C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1494C>G MANE Select ENSP00000371923.3:p.Ser498Arg
ENST00000382483.3:c.1494C>G ENSP00000371923.3:p.Ser498Arg
NM_178857.5:c.1494C>G NP_849188.4:p.Ser498Arg
NM_178857.6:c.1494C>G MANE Select NP_849188.4:p.Ser498Arg
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