Canonical Allele Identifier: CA4625107
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs766349346
ExAC: 8:10469982 A / C
gnomAD v2: 8-10469982-A-C
gnomAD v3: 8-10612472-A-C
gnomAD v4: 8-10612472-A-C
MyVariant Identifiers: chr8:g.10469982A>C (hg19) chr8:g.10612472A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612472A>C , CM000670.2:g.10612472A>C GRCh38
NC_000008.10:g.10469982A>C , CM000670.1:g.10469982A>C GRCh37
NC_000008.9:g.10507392A>C NCBI36
NG_028035.1:g.47636T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1626T>G MANE Select ENSP00000371923.3:p.His542Gln
ENST00000382483.3:c.1626T>G ENSP00000371923.3:p.His542Gln
NM_178857.5:c.1626T>G NP_849188.4:p.His542Gln
NM_178857.6:c.1626T>G MANE Select NP_849188.4:p.His542Gln
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