Canonical Allele Identifier: CA10608328

Gene: OR10Z1 SPTA1

Linked Data

• ClinVar Variation Id: 292917
• ClinVar RCV Id: RCV000302341 ; RCV000359579 ; RCV000398817
• dbSNP Id: rs34122435
• gnomAD v2: 1-158580553-TA-T
• gnomAD v3: 1-158610763-TA-T
• gnomAD v4: 1-158610763-TA-T
• MyVariant Identifiers: chr1:g.158580554del (hg19) ; chr1:g.158610764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158610770del , CM000663.2:g.158610770del	GRCh38
NC_000001.10:g.158580560del , CM000663.1:g.158580560del	GRCh37
NC_000001.9:g.156847184del	NCBI36
NG_011474.1:g.80953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641002.1:c.*3390del (OR10Z1) MANE Select	ENSP00000493003.1:n.*3390del
ENST00000643759.2:c.*500del (SPTA1) MANE Select	ENSP00000495214.1:n.*500del
ENST00000368147.8:c.*500del (SPTA1)	ENSP00000357129.4:n.*500del
ENST00000614909.4:c.*466del (SPTA1)	ENSP00000482595.1:n.*466del
NM_003126.2:c.*500del (SPTA1)	NP_003117.2:n.*500del
XM_011509916.1:c.*500del (SPTA1)	XP_011508218.1:n.*500del
XM_011509917.1:c.*500del (SPTA1)	XP_011508219.1:n.*500del
NM_003126.3:c.*500del (SPTA1)	NP_003117.2:n.*500del
XM_011509916.2:c.*500del (SPTA1)	XP_011508218.1:n.*500del
XM_011509917.3:c.*500del (SPTA1)	XP_011508219.1:n.*500del
NM_003126.4:c.*500del (SPTA1) MANE Select	NP_003117.2:n.*500del
NM_001004478.2:c.*3390del (OR10Z1) MANE Select	NP_001004478.1:n.*3390del