Canonical Allele Identifier: CA2937579

Gene: STAP1

Linked Data

• dbSNP Id: rs763125873
• ExAC: 4:68447157 A / C
• gnomAD v2: 4-68447157-A-C
• gnomAD v3: 4-67581439-A-C
• gnomAD v4: 4-67581439-A-C
• MyVariant Identifiers: chr4:g.68447157A>C (hg19) ; chr4:g.67581439A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265404.7:c.498A>C MANE Select	ENSP00000265404.2:p.Glu166Asp
ENST00000265404.6:c.498A>C	ENSP00000265404.2:p.Glu166Asp
ENST00000396225.1:c.498A>C	ENSP00000379527.1:p.Glu166Asp
NM_012108.2:c.498A>C	NP_036240.1:p.Glu166Asp
XM_005265675.3:c.498A>C	XP_005265732.1:p.Glu166Asp
XM_006714175.2:c.498A>C	XP_006714238.1:p.Glu166Asp
XR_427541.2:n.556A>C
NM_001317769.1:c.498A>C	NP_001304698.1:p.Glu166Asp
NM_012108.3:c.498A>C	NP_036240.1:p.Glu166Asp
XM_017008018.2:c.498A>C	XP_016863507.1:p.Glu166Asp
NM_012108.4:c.498A>C MANE Select	NP_036240.1:p.Glu166Asp
NM_001317769.2:c.498A>C	NP_001304698.1:p.Glu166Asp