Canonical Allele Identifier: CA2937677
Community Standard Title: NM_012108.4(STAP1):c.730-41G>C
Gene: STAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67593219G>C , CM000666.2:g.67593219G>C GRCh38
NC_000004.11:g.68458937G>C , CM000666.1:g.68458937G>C GRCh37
NC_000004.10:g.68141532G>C NCBI36
NG_047142.1:g.39492G>C

Transcript Alleles

HGVS Amino-acid Change
NM_012108.4:c.730-41G>C MANE Select NP_036240.1:n.730-41G>C
ENST00000265404.7:c.730-41G>C MANE Select ENSP00000265404.2:n.730-41G>C
NM_001317769.1:c.730-41G>C NP_001304698.1:n.730-41G>C
NM_001317769.2:c.730-41G>C NP_001304698.1:n.730-41G>C
NM_012108.2:c.730-41G>C NP_036240.1:n.730-41G>C
NM_012108.3:c.730-41G>C NP_036240.1:n.730-41G>C
ENST00000265404.6:c.730-41G>C ENSP00000265404.2:n.730-41G>C
ENST00000396225.1:c.730-41G>C ENSP00000379527.1:n.730-41G>C
XM_005265675.3:c.729+2266G>C XP_005265732.1:n.729+2266G>C
XM_006714175.2:c.730-41G>C XP_006714238.1:n.730-41G>C
XR_427541.2:n.787+2266G>C