Canonical Allele Identifier: CA370296254
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10470472G>T (hg19) chr8:g.10612962G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612962G>T , CM000670.2:g.10612962G>T GRCh38
NC_000008.10:g.10470472G>T , CM000670.1:g.10470472G>T GRCh37
NC_000008.9:g.10507882G>T NCBI36
NG_028035.1:g.47146C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1136C>A MANE Select ENSP00000371923.3:p.Pro379His
ENST00000382483.3:c.1136C>A ENSP00000371923.3:p.Pro379His
NM_178857.5:c.1136C>A NP_849188.4:p.Pro379His
NM_178857.6:c.1136C>A MANE Select NP_849188.4:p.Pro379His
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