Canonical Allele Identifier: CA439648647
Gene: STAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1727855942
gnomAD v4: 4-67581442-T-C
MyVariant Identifiers: chr4:g.68447160T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67581442T>C , CM000666.2:g.67581442T>C GRCh38
NC_000004.11:g.68447160T>C , CM000666.1:g.68447160T>C GRCh37
NC_000004.10:g.68129755T>C NCBI36
NG_047142.1:g.27715T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265404.7:c.501T>C MANE Select ENSP00000265404.2:p.Asp167=
ENST00000265404.6:c.501T>C ENSP00000265404.2:p.Asp167=
ENST00000396225.1:c.501T>C ENSP00000379527.1:p.Asp167=
NM_012108.2:c.501T>C NP_036240.1:p.Asp167=
XM_005265675.3:c.501T>C XP_005265732.1:p.Asp167=
XM_006714175.2:c.501T>C XP_006714238.1:p.Asp167=
XR_427541.2:n.559T>C
NM_001317769.1:c.501T>C NP_001304698.1:p.Asp167=
NM_012108.3:c.501T>C NP_036240.1:p.Asp167=
XM_017008018.2:c.501T>C XP_016863507.1:p.Asp167=
NM_012108.4:c.501T>C MANE Select NP_036240.1:p.Asp167=
NM_001317769.2:c.501T>C NP_001304698.1:p.Asp167=