Canonical Allele Identifier: CA357051695

Gene: STAP1

Linked Data

• dbSNP Id: rs1391938835
• gnomAD v3: 4-67581432-C-T
• gnomAD v4: 4-67581432-C-T
• MyVariant Identifiers: chr4:g.68447150C>T (hg19) ; chr4:g.67581432C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67581432C>T , CM000666.2:g.67581432C>T	GRCh38
NC_000004.11:g.68447150C>T , CM000666.1:g.68447150C>T	GRCh37
NC_000004.10:g.68129745C>T	NCBI36
NG_047142.1:g.27705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265404.7:c.491C>T MANE Select	ENSP00000265404.2:p.Pro164Leu
ENST00000265404.6:c.491C>T	ENSP00000265404.2:p.Pro164Leu
ENST00000396225.1:c.491C>T	ENSP00000379527.1:p.Pro164Leu
NM_012108.2:c.491C>T	NP_036240.1:p.Pro164Leu
XM_005265675.3:c.491C>T	XP_005265732.1:p.Pro164Leu
XM_006714175.2:c.491C>T	XP_006714238.1:p.Pro164Leu
XR_427541.2:n.549C>T
NM_001317769.1:c.491C>T	NP_001304698.1:p.Pro164Leu
NM_012108.3:c.491C>T	NP_036240.1:p.Pro164Leu
XM_017008018.2:c.491C>T	XP_016863507.1:p.Pro164Leu
NM_012108.4:c.491C>T MANE Select	NP_036240.1:p.Pro164Leu
NM_001317769.2:c.491C>T	NP_001304698.1:p.Pro164Leu