Canonical Allele Identifier: CA357051783

Gene: STAP1

Linked Data

• gnomAD v4: 4-67581440-G-A
• MyVariant Identifiers: chr4:g.68447158G>A (hg19) ; chr4:g.67581440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67581440G>A , CM000666.2:g.67581440G>A	GRCh38
NC_000004.11:g.68447158G>A , CM000666.1:g.68447158G>A	GRCh37
NC_000004.10:g.68129753G>A	NCBI36
NG_047142.1:g.27713G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265404.7:c.499G>A MANE Select	ENSP00000265404.2:p.Asp167Asn
ENST00000265404.6:c.499G>A	ENSP00000265404.2:p.Asp167Asn
ENST00000396225.1:c.499G>A	ENSP00000379527.1:p.Asp167Asn
NM_012108.2:c.499G>A	NP_036240.1:p.Asp167Asn
XM_005265675.3:c.499G>A	XP_005265732.1:p.Asp167Asn
XM_006714175.2:c.499G>A	XP_006714238.1:p.Asp167Asn
XR_427541.2:n.557G>A
NM_001317769.1:c.499G>A	NP_001304698.1:p.Asp167Asn
NM_012108.3:c.499G>A	NP_036240.1:p.Asp167Asn
XM_017008018.2:c.499G>A	XP_016863507.1:p.Asp167Asn
NM_012108.4:c.499G>A MANE Select	NP_036240.1:p.Asp167Asn
NM_001317769.2:c.499G>A	NP_001304698.1:p.Asp167Asn