Canonical Allele Identifier: CA14415076
Gene: RPA1 HGNC NCBI

Linked Data

dbSNP Id: rs8077346
gnomAD v2: 17-1786133-C-T
gnomAD v3: 17-1882839-C-T
gnomAD v4: 17-1882839-C-T
MyVariant Identifiers: chr17:g.1786133C>T (hg19) chr17:g.1882839C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1882839C>T , CM000679.2:g.1882839C>T GRCh38
NC_000017.10:g.1786133C>T , CM000679.1:g.1786133C>T GRCh37
NC_000017.9:g.1732883C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254719.10:c.1242-973C>T MANE Select ENSP00000254719.4:n.1242-973C>T
ENST00000254719.9:c.1242-973C>T ENSP00000254719.4:n.1242-973C>T
ENST00000574049.1:c.510-973C>T ENSP00000461466.1:n.510-973C>T
NM_002945.3:c.1242-973C>T NP_002936.1:n.1242-973C>T
NM_001355120.1:c.1203-973C>T NP_001342049.1:n.1203-973C>T
NM_001355121.1:c.1242-973C>T NP_001342050.1:n.1242-973C>T
NM_002945.4:c.1242-973C>T NP_002936.1:n.1242-973C>T
XM_024450863.1:c.1248-973C>T XP_024306631.1:n.1248-973C>T
NM_001355120.2:c.1203-973C>T NP_001342049.1:n.1203-973C>T
NM_001355121.2:c.1242-973C>T NP_001342050.1:n.1242-973C>T
NM_002945.5:c.1242-973C>T MANE Select NP_002936.1:n.1242-973C>T
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