Canonical Allele Identifier: CA124177
Gene: KLK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14659
ClinVar RCV Id: RCV000015766
dbSNP Id: rs5515
ExAC: 19:51323676 C / T
gnomAD v2: 19-51323676-C-T
gnomAD v3: 19-50820420-C-T
gnomAD v4: 19-50820420-C-T
MyVariant Identifiers: chr19:g.51323676C>T (hg19) chr19:g.50820420C>T (hg38)
PubMed: PMID:11912256 PMID:15765151
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50820420C>T , CM000681.2:g.50820420C>T GRCh38
NC_000019.9:g.51323676C>T , CM000681.1:g.51323676C>T GRCh37
NC_000019.8:g.56015488C>T NCBI36
NG_012094.1:g.8368G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301420.3:c.230G>A MANE Select ENSP00000301420.1:p.Arg77His
ENST00000301420.2:c.230G>A ENSP00000301420.1:p.Arg77His
ENST00000593325.5:c.*1039G>A ENSP00000472939.1:n.*1039G>A
ENST00000593859.5:n.269G>A
ENST00000596300.1:n.430G>A
NM_002257.3:c.230G>A NP_002248.1:p.Arg77His
XM_011526942.1:c.-77G>A XP_011525244.1:n.-77G>A
NM_002257.4:c.230G>A MANE Select NP_002248.1:p.Arg77His
Search 100 bp 5'
Search 100 bp 3'