Canonical Allele Identifier: CA1181650

Gene: OR10Z1 SPTA1

Linked Data

• ClinVar Variation Id: 292935
• ClinVar RCV Id: RCV000295733 ; RCV000350643 ; RCV000386301
• dbSNP Id: rs202171095
• ExAC: 1:158581015 C / T
• gnomAD v2: 1-158581015-C-T
• gnomAD v3: 1-158611225-C-T
• gnomAD v4: 1-158611225-C-T
• MyVariant Identifiers: chr1:g.158581015C>T (hg19) ; chr1:g.158611225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158611225C>T , CM000663.2:g.158611225C>T	GRCh38
NC_000001.10:g.158581015C>T , CM000663.1:g.158581015C>T	GRCh37
NC_000001.9:g.156847639C>T	NCBI36
NG_011474.1:g.80492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641002.1:c.*3845C>T (OR10Z1) MANE Select	ENSP00000493003.1:n.*3845C>T
ENST00000643759.2:c.*39G>A (SPTA1) MANE Select	ENSP00000495214.1:n.*39G>A
ENST00000368147.8:c.*39G>A (SPTA1)	ENSP00000357129.4:n.*39G>A
ENST00000485680.1:n.405G>A (SPTA1)
ENST00000614909.4:c.*5G>A (SPTA1)	ENSP00000482595.1:n.*5G>A
NM_003126.2:c.*39G>A (SPTA1)	NP_003117.2:n.*39G>A
XM_011509916.1:c.*39G>A (SPTA1)	XP_011508218.1:n.*39G>A
XM_011509917.1:c.*39G>A (SPTA1)	XP_011508219.1:n.*39G>A
NM_003126.3:c.*39G>A (SPTA1)	NP_003117.2:n.*39G>A
XM_011509916.2:c.*39G>A (SPTA1)	XP_011508218.1:n.*39G>A
XM_011509917.3:c.*39G>A (SPTA1)	XP_011508219.1:n.*39G>A
NM_003126.4:c.*39G>A (SPTA1) MANE Select	NP_003117.2:n.*39G>A
NM_001004478.2:c.*3845C>T (OR10Z1) MANE Select	NP_001004478.1:n.*3845C>T