Canonical Allele Identifier: CA2937580

Gene: STAP1

Linked Data

• dbSNP Id: rs763125873
• ExAC: 4:68447157 A / G
• gnomAD v2: 4-68447157-A-G
• gnomAD v4: 4-67581439-A-G
• MyVariant Identifiers: chr4:g.68447157A>G (hg19) ; chr4:g.67581439A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67581439A>G , CM000666.2:g.67581439A>G	GRCh38
NC_000004.11:g.68447157A>G , CM000666.1:g.68447157A>G	GRCh37
NC_000004.10:g.68129752A>G	NCBI36
NG_047142.1:g.27712A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265404.7:c.498A>G MANE Select	ENSP00000265404.2:p.Glu166=
ENST00000265404.6:c.498A>G	ENSP00000265404.2:p.Glu166=
ENST00000396225.1:c.498A>G	ENSP00000379527.1:p.Glu166=
NM_012108.2:c.498A>G	NP_036240.1:p.Glu166=
XM_005265675.3:c.498A>G	XP_005265732.1:p.Glu166=
XM_006714175.2:c.498A>G	XP_006714238.1:p.Glu166=
XR_427541.2:n.556A>G
NM_001317769.1:c.498A>G	NP_001304698.1:p.Glu166=
NM_012108.3:c.498A>G	NP_036240.1:p.Glu166=
XM_017008018.2:c.498A>G	XP_016863507.1:p.Glu166=
NM_012108.4:c.498A>G MANE Select	NP_036240.1:p.Glu166=
NM_001317769.2:c.498A>G	NP_001304698.1:p.Glu166=