Canonical Allele Identifier: CA14099300
Gene: RPAP1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.41535457C>T
GRCh37 chr15:g.41827655C>T
gnomAD v2:
15:41827655 C / T
gnomAD v3:
15:41535457 C / T
gnomAD v4:
chr15-41535457-C-T
Joint Max Group AF 0.54134637 (MID)
Genomes Max Group AF 0.51495869 (NFE)
Exomes Max Group AF 0.54406913 (MID)
dbSNP:
2297381
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41535457C>T , CM000677.2:g.41535457C>T GRCh38
NC_000015.9:g.41827655C>T , CM000677.1:g.41827655C>T GRCh37
NC_000015.8:g.39614947C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000304330.9:c.541+55G>A MANE Select ENSP00000306123.4:n.541+55G>A
ENST00000304330.8:c.541+55G>A ENSP00000306123.4:n.541+55G>A
ENST00000561603.5:c.541+55G>A ENSP00000456207.1:n.541+55G>A
ENST00000562303.5:c.541+55G>A ENSP00000455363.1:n.541+55G>A
ENST00000563293.1:n.368+55G>A
NM_015540.3:c.541+55G>A NP_056355.2:n.541+55G>A
XM_005254297.1:c.541+55G>A XP_005254354.1:n.541+55G>A
XM_006720469.1:c.541+55G>A XP_006720532.1:n.541+55G>A
NM_015540.4:c.541+55G>A MANE Select NP_056355.2:n.541+55G>A
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