Canonical Allele Identifier: CA1182042

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292955
• ClinVar RCV Id: RCV000269191 ; RCV000326541 ; RCV000383425 ; RCV003718149
• dbSNP Id: rs757836340
• ExAC: 1:158590144 A / T
• gnomAD v2: 1-158590144-A-T
• gnomAD v3: 1-158620354-A-T
• gnomAD v4: 1-158620354-A-T
• MyVariant Identifiers: chr1:g.158590144A>T (hg19) ; chr1:g.158620354A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158620354A>T , CM000663.2:g.158620354A>T	GRCh38
NC_000001.10:g.158590144A>T , CM000663.1:g.158590144A>T	GRCh37
NC_000001.9:g.156856768A>T	NCBI36
NG_011474.1:g.71363T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6233T>A MANE Select	ENSP00000495214.1:p.Ile2078Asn
ENST00000368147.8:c.6233T>A	ENSP00000357129.4:p.Ile2078Asn
ENST00000484520.1:n.436T>A
ENST00000614909.4:c.6233T>A	ENSP00000482595.1:p.Ile2078Asn
NM_003126.2:c.6233T>A	NP_003117.2:p.Ile2078Asn
XM_011509916.1:c.6233T>A	XP_011508218.1:p.Ile2078Asn
XM_011509917.1:c.6233T>A	XP_011508219.1:p.Ile2078Asn
NM_003126.3:c.6233T>A	NP_003117.2:p.Ile2078Asn
XM_011509916.2:c.6233T>A	XP_011508218.1:p.Ile2078Asn
XM_011509917.3:c.6233T>A	XP_011508219.1:p.Ile2078Asn
NM_003126.4:c.6233T>A MANE Select	NP_003117.2:p.Ile2078Asn