Canonical Allele Identifier: CA10608363

Gene: OR10Z1 SPTA1

Linked Data

• ClinVar Variation Id: 292918
• ClinVar RCV Id: RCV000262480 ; RCV000301383 ; RCV000353849
• dbSNP Id: rs867404163
• gnomAD v4: 1-158610941-A-G
• MyVariant Identifiers: chr1:g.158580731A>G (hg19) ; chr1:g.158610941A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158610941A>G , CM000663.2:g.158610941A>G	GRCh38
NC_000001.10:g.158580731A>G , CM000663.1:g.158580731A>G	GRCh37
NC_000001.9:g.156847355A>G	NCBI36
NG_011474.1:g.80776T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641002.1:c.*3561A>G (OR10Z1) MANE Select	ENSP00000493003.1:n.*3561A>G
ENST00000643759.2:c.*323T>C (SPTA1) MANE Select	ENSP00000495214.1:n.*323T>C
ENST00000368147.8:c.*323T>C (SPTA1)	ENSP00000357129.4:n.*323T>C
ENST00000614909.4:c.*289T>C (SPTA1)	ENSP00000482595.1:n.*289T>C
NM_003126.2:c.*323T>C (SPTA1)	NP_003117.2:n.*323T>C
XM_011509916.1:c.*323T>C (SPTA1)	XP_011508218.1:n.*323T>C
XM_011509917.1:c.*323T>C (SPTA1)	XP_011508219.1:n.*323T>C
NM_003126.3:c.*323T>C (SPTA1)	NP_003117.2:n.*323T>C
XM_011509916.2:c.*323T>C (SPTA1)	XP_011508218.1:n.*323T>C
XM_011509917.3:c.*323T>C (SPTA1)	XP_011508219.1:n.*323T>C
NM_003126.4:c.*323T>C (SPTA1) MANE Select	NP_003117.2:n.*323T>C
NM_001004478.2:c.*3561A>G (OR10Z1) MANE Select	NP_001004478.1:n.*3561A>G