Canonical Allele Identifier: CA10607845

Gene: OR10Z1 SPTA1

Linked Data

• ClinVar Variation Id: 292919
• ClinVar RCV Id: RCV000261434 ; RCV000332992 ; RCV000389872
• dbSNP Id: rs886045377
• gnomAD v3: 1-158610968-C-A
• gnomAD v4: 1-158610968-C-A
• MyVariant Identifiers: chr1:g.158580758C>A (hg19) ; chr1:g.158610968C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158610968C>A , CM000663.2:g.158610968C>A	GRCh38
NC_000001.10:g.158580758C>A , CM000663.1:g.158580758C>A	GRCh37
NC_000001.9:g.156847382C>A	NCBI36
NG_011474.1:g.80749G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641002.1:c.*3588C>A (OR10Z1) MANE Select	ENSP00000493003.1:n.*3588C>A
ENST00000643759.2:c.*296G>T (SPTA1) MANE Select	ENSP00000495214.1:n.*296G>T
ENST00000368147.8:c.*296G>T (SPTA1)	ENSP00000357129.4:n.*296G>T
ENST00000614909.4:c.*262G>T (SPTA1)	ENSP00000482595.1:n.*262G>T
NM_003126.2:c.*296G>T (SPTA1)	NP_003117.2:n.*296G>T
XM_011509916.1:c.*296G>T (SPTA1)	XP_011508218.1:n.*296G>T
XM_011509917.1:c.*296G>T (SPTA1)	XP_011508219.1:n.*296G>T
NM_003126.3:c.*296G>T (SPTA1)	NP_003117.2:n.*296G>T
XM_011509916.2:c.*296G>T (SPTA1)	XP_011508218.1:n.*296G>T
XM_011509917.3:c.*296G>T (SPTA1)	XP_011508219.1:n.*296G>T
NM_003126.4:c.*296G>T (SPTA1) MANE Select	NP_003117.2:n.*296G>T
NM_001004478.2:c.*3588C>A (OR10Z1) MANE Select	NP_001004478.1:n.*3588C>A