Canonical Allele Identifier: CA10608008

Gene: OR10Z1 SPTA1

Linked Data

• ClinVar Variation Id: 292920
• ClinVar RCV Id: RCV000276876 ; RCV000327199 ; RCV000381764 ; RCV001594929
• dbSNP Id: rs12601
• gnomAD v2: 1-158580759-G-A
• gnomAD v3: 1-158610969-G-A
• gnomAD v4: 1-158610969-G-A
• MyVariant Identifiers: chr1:g.158580759G>A (hg19) ; chr1:g.158610969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158610969G>A , CM000663.2:g.158610969G>A	GRCh38
NC_000001.10:g.158580759G>A , CM000663.1:g.158580759G>A	GRCh37
NC_000001.9:g.156847383G>A	NCBI36
NG_011474.1:g.80748C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641002.1:c.*3589G>A (OR10Z1) MANE Select	ENSP00000493003.1:n.*3589G>A
ENST00000643759.2:c.*295C>T (SPTA1) MANE Select	ENSP00000495214.1:n.*295C>T
ENST00000368147.8:c.*295C>T (SPTA1)	ENSP00000357129.4:n.*295C>T
ENST00000614909.4:c.*261C>T (SPTA1)	ENSP00000482595.1:n.*261C>T
NM_003126.2:c.*295C>T (SPTA1)	NP_003117.2:n.*295C>T
XM_011509916.1:c.*295C>T (SPTA1)	XP_011508218.1:n.*295C>T
XM_011509917.1:c.*295C>T (SPTA1)	XP_011508219.1:n.*295C>T
NM_003126.3:c.*295C>T (SPTA1)	NP_003117.2:n.*295C>T
XM_011509916.2:c.*295C>T (SPTA1)	XP_011508218.1:n.*295C>T
XM_011509917.3:c.*295C>T (SPTA1)	XP_011508219.1:n.*295C>T
NM_003126.4:c.*295C>T (SPTA1) MANE Select	NP_003117.2:n.*295C>T
NM_001004478.2:c.*3589G>A (OR10Z1) MANE Select	NP_001004478.1:n.*3589G>A