Canonical Allele Identifier: CA10608009

Gene: OR10Z1 SPTA1

Linked Data

• ClinVar Variation Id: 292925
• ClinVar RCV Id: RCV000270194 ; RCV000315165 ; RCV000369888
• dbSNP Id: rs868674912
• gnomAD v3: 1-158611131-G-A
• gnomAD v4: 1-158611131-G-A
• MyVariant Identifiers: chr1:g.158580921G>A (hg19) ; chr1:g.158611131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158611131G>A , CM000663.2:g.158611131G>A	GRCh38
NC_000001.10:g.158580921G>A , CM000663.1:g.158580921G>A	GRCh37
NC_000001.9:g.156847545G>A	NCBI36
NG_011474.1:g.80586C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641002.1:c.*3751G>A (OR10Z1) MANE Select	ENSP00000493003.1:n.*3751G>A
ENST00000643759.2:c.*133C>T (SPTA1) MANE Select	ENSP00000495214.1:n.*133C>T
ENST00000368147.8:c.*133C>T (SPTA1)	ENSP00000357129.4:n.*133C>T
ENST00000614909.4:c.*99C>T (SPTA1)	ENSP00000482595.1:n.*99C>T
NM_003126.2:c.*133C>T (SPTA1)	NP_003117.2:n.*133C>T
XM_011509916.1:c.*133C>T (SPTA1)	XP_011508218.1:n.*133C>T
XM_011509917.1:c.*133C>T (SPTA1)	XP_011508219.1:n.*133C>T
NM_003126.3:c.*133C>T (SPTA1)	NP_003117.2:n.*133C>T
XM_011509916.2:c.*133C>T (SPTA1)	XP_011508218.1:n.*133C>T
XM_011509917.3:c.*133C>T (SPTA1)	XP_011508219.1:n.*133C>T
NM_003126.4:c.*133C>T (SPTA1) MANE Select	NP_003117.2:n.*133C>T
NM_001004478.2:c.*3751G>A (OR10Z1) MANE Select	NP_001004478.1:n.*3751G>A