Canonical Allele Identifier: CA10607847

Gene: OR10Z1 SPTA1

Linked Data

• ClinVar Variation Id: 292924
• ClinVar RCV Id: RCV000299780 ; RCV000368760 ; RCV000390267
• dbSNP Id: rs866529035
• gnomAD v3: 1-158611130-A-C
• gnomAD v4: 1-158611130-A-C
• COSMIC: COSN18714052
• MyVariant Identifiers: chr1:g.158580920A>C (hg19) ; chr1:g.158611130A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158611130A>C , CM000663.2:g.158611130A>C	GRCh38
NC_000001.10:g.158580920A>C , CM000663.1:g.158580920A>C	GRCh37
NC_000001.9:g.156847544A>C	NCBI36
NG_011474.1:g.80587T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641002.1:c.*3750A>C (OR10Z1) MANE Select	ENSP00000493003.1:n.*3750A>C
ENST00000643759.2:c.*134T>G (SPTA1) MANE Select	ENSP00000495214.1:n.*134T>G
ENST00000368147.8:c.*134T>G (SPTA1)	ENSP00000357129.4:n.*134T>G
ENST00000614909.4:c.*100T>G (SPTA1)	ENSP00000482595.1:n.*100T>G
NM_003126.2:c.*134T>G (SPTA1)	NP_003117.2:n.*134T>G
XM_011509916.1:c.*134T>G (SPTA1)	XP_011508218.1:n.*134T>G
XM_011509917.1:c.*134T>G (SPTA1)	XP_011508219.1:n.*134T>G
NM_003126.3:c.*134T>G (SPTA1)	NP_003117.2:n.*134T>G
XM_011509916.2:c.*134T>G (SPTA1)	XP_011508218.1:n.*134T>G
XM_011509917.3:c.*134T>G (SPTA1)	XP_011508219.1:n.*134T>G
NM_003126.4:c.*134T>G (SPTA1) MANE Select	NP_003117.2:n.*134T>G
NM_001004478.2:c.*3750A>C (OR10Z1) MANE Select	NP_001004478.1:n.*3750A>C