Canonical Allele Identifier: CA2937578

Gene: STAP1

Linked Data

• dbSNP Id: rs775370641
• ExAC: 4:68447153 C / T
• gnomAD v2: 4-68447153-C-T
• gnomAD v3: 4-67581435-C-T
• gnomAD v4: 4-67581435-C-T
• MyVariant Identifiers: chr4:g.68447153C>T (hg19) ; chr4:g.67581435C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67581435C>T , CM000666.2:g.67581435C>T	GRCh38
NC_000004.11:g.68447153C>T , CM000666.1:g.68447153C>T	GRCh37
NC_000004.10:g.68129748C>T	NCBI36
NG_047142.1:g.27708C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265404.7:c.494C>T MANE Select	ENSP00000265404.2:p.Thr165Ile
ENST00000265404.6:c.494C>T	ENSP00000265404.2:p.Thr165Ile
ENST00000396225.1:c.494C>T	ENSP00000379527.1:p.Thr165Ile
NM_012108.2:c.494C>T	NP_036240.1:p.Thr165Ile
XM_005265675.3:c.494C>T	XP_005265732.1:p.Thr165Ile
XM_006714175.2:c.494C>T	XP_006714238.1:p.Thr165Ile
XR_427541.2:n.552C>T
NM_001317769.1:c.494C>T	NP_001304698.1:p.Thr165Ile
NM_012108.3:c.494C>T	NP_036240.1:p.Thr165Ile
XM_017008018.2:c.494C>T	XP_016863507.1:p.Thr165Ile
NM_012108.4:c.494C>T MANE Select	NP_036240.1:p.Thr165Ile
NM_001317769.2:c.494C>T	NP_001304698.1:p.Thr165Ile