Canonical Allele Identifier: CA357051819

Gene: STAP1

Linked Data

• gnomAD v4: 4-67581442-T-G
• MyVariant Identifiers: chr4:g.68447160T>G (hg19) ; chr4:g.67581442T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265404.7:c.501T>G MANE Select	ENSP00000265404.2:p.Asp167Glu
ENST00000265404.6:c.501T>G	ENSP00000265404.2:p.Asp167Glu
ENST00000396225.1:c.501T>G	ENSP00000379527.1:p.Asp167Glu
NM_012108.2:c.501T>G	NP_036240.1:p.Asp167Glu
XM_005265675.3:c.501T>G	XP_005265732.1:p.Asp167Glu
XM_006714175.2:c.501T>G	XP_006714238.1:p.Asp167Glu
XR_427541.2:n.559T>G
NM_001317769.1:c.501T>G	NP_001304698.1:p.Asp167Glu
NM_012108.3:c.501T>G	NP_036240.1:p.Asp167Glu
XM_017008018.2:c.501T>G	XP_016863507.1:p.Asp167Glu
NM_012108.4:c.501T>G MANE Select	NP_036240.1:p.Asp167Glu
NM_001317769.2:c.501T>G	NP_001304698.1:p.Asp167Glu