Canonical Allele Identifier: CA393212825

Gene: PIAS1

Linked Data

• ClinVar Variation Id: 2805498
• ClinVar RCV Id: RCV003676788
• gnomAD v4: 15-68173876-C-A
• MyVariant Identifiers: chr15:g.68466214C>A (hg19) ; chr15:g.68173876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68173876C>A , CM000677.2:g.68173876C>A	GRCh38
NC_000015.9:g.68466214C>A , CM000677.1:g.68466214C>A	GRCh37
NC_000015.8:g.66253268C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249636.11:c.1153C>A MANE Select	ENSP00000249636.6:p.His385Asn
ENST00000249636.10:c.1153C>A	ENSP00000249636.6:p.His385Asn
ENST00000545237.1:c.1159C>A	ENSP00000438574.1:p.His387Asn
NM_016166.1:c.1153C>A	NP_057250.1:p.His385Asn
XM_005254735.1:c.1126C>A	XP_005254792.1:p.His376Asn
XM_011522126.1:c.1180C>A	XP_011520428.1:p.His394Asn
XM_011522127.1:c.1135C>A	XP_011520429.1:p.His379Asn
XM_011522128.1:c.1126C>A	XP_011520430.1:p.His376Asn
NM_001320687.1:c.1159C>A	NP_001307616.1:p.His387Asn
NM_016166.2:c.1153C>A	NP_057250.1:p.His385Asn
XM_011522126.2:c.1180C>A	XP_011520428.1:p.His394Asn
XM_011522127.2:c.1135C>A	XP_011520429.1:p.His379Asn
XM_017022688.1:c.1159C>A	XP_016878177.1:p.His387Asn
XM_017022689.1:c.1132C>A	XP_016878178.1:p.His378Asn
XM_017022690.1:c.1126C>A	XP_016878179.1:p.His376Asn
XM_017022691.2:c.1126C>A	XP_016878180.1:p.His376Asn
XM_024450094.1:c.601C>A	XP_024305862.1:p.His201Asn
NM_016166.3:c.1153C>A MANE Select	NP_057250.1:p.His385Asn