Canonical Allele Identifier: CA5562418
Gene: PLAU HGNC NCBI
C10orf55 HGNC NCBI
COSMIC:
COSM4144861 (not active)
MyVariant.info:
GRCh38 chr10:g.73913343T>C
GRCh37 chr10:g.75673101T>C
Revel Score:
ENST00000446342 0.248
ENST00000372764 (MANE Select) 0.248
ENST00000372762 0.248
ENST00000372761 0.248
gnomAD v2:
10:75673101 T / C
gnomAD v3:
10:73913343 T / C
gnomAD v4:
chr10-73913343-T-C
Joint Max Group AF 0.95419858 (AFR)
Genomes Max Group AF 0.9482086 (AFR)
Exomes Max Group AF 0.95620767 (AFR)
dbSNP:
2227564
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73913343T>C , CM000672.2:g.73913343T>C GRCh38
NC_000010.10:g.75673101T>C , CM000672.1:g.75673101T>C GRCh37
NC_000010.9:g.75343107T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372764.4:c.422T>C (PLAU) MANE Select ENSP00000361850.3:p.Leu141Pro
ENST00000372764.3:c.422T>C (PLAU) ENSP00000361850.3:p.Leu141Pro
ENST00000409178.5:n.269-268A>G (C10orf55)
ENST00000412307.3:c.-73-268A>G (C10orf55) ENSP00000409225.2:n.-73-268A>G
ENST00000446342.5:c.371T>C (PLAU) ENSP00000388474.1:p.Leu124Pro
ENST00000494287.1:n.497T>C (PLAU)
NM_001001791.2:c.-73-268A>G (C10orf55) NP_001001791.2:n.-73-268A>G
XM_011539866.1:c.422T>C (PLAU) XP_011538168.1:p.Leu141Pro
XM_011539867.1:c.164T>C (PLAU) XP_011538169.1:p.Leu55Pro
XM_011539866.2:c.422T>C (PLAU) XP_011538168.1:p.Leu141Pro
NM_001145031.3:c.371T>C (PLAU) NP_001138503.2:p.Leu124Pro
NM_001319191.2:c.164T>C (PLAU) NP_001306120.2:p.Leu55Pro
NM_002658.6:c.422T>C (PLAU) MANE Select NP_002649.2:p.Leu141Pro
NR_160937.1:n.320-268A>G (C10orf55)
NR_160938.1:n.269-268A>G (C10orf55)
Search 100 bp 5'
Search 100 bp 3'