Canonical Allele Identifier: CA1099397

Gene: RPTN PUDPP2

Linked Data

• ClinVar Variation Id: 3156301
• ClinVar RCV Id: RCV004452179
• dbSNP Id: rs777242154
• ExAC: 1:152127642 C / T
• gnomAD v2: 1-152127642-C-T
• gnomAD v3: 1-152155166-C-T
• gnomAD v4: 1-152155166-C-T
• MyVariant Identifiers: chr1:g.152127642C>T (hg19) ; chr1:g.152155166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152155166C>T , CM000663.2:g.152155166C>T	GRCh38
NC_000001.10:g.152127642C>T , CM000663.1:g.152127642C>T	GRCh37
NC_000001.9:g.150394266C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316073.3:c.1933G>A (RPTN) MANE Select	ENSP00000317895.3:p.Gly645Ser
ENST00000628080.1:n.48-30461G>A (PUDPP2)
NM_001122965.1:c.1933G>A (RPTN) MANE Select	NP_001116437.1:p.Gly645Ser