Canonical Allele Identifier: CA1183693

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 293035
• ClinVar RCV Id: RCV000308684 ; RCV000345760 ; RCV000405346 ; RCV000961006
• dbSNP Id: rs148156245
• ExAC: 1:158639586 T / C
• gnomAD v2: 1-158639586-T-C
• gnomAD v3: 1-158669796-T-C
• gnomAD v4: 1-158669796-T-C
• MyVariant Identifiers: chr1:g.158639586T>C (hg19) ; chr1:g.158669796T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158669796T>C , CM000663.2:g.158669796T>C	GRCh38
NC_000001.10:g.158639586T>C , CM000663.1:g.158639586T>C	GRCh37
NC_000001.9:g.156906210T>C	NCBI36
NG_011474.1:g.21921A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.1600-10A>G MANE Select	ENSP00000495214.1:n.1600-10A>G
ENST00000368147.8:c.1600-10A>G	ENSP00000357129.4:n.1600-10A>G
ENST00000614909.4:c.1600-10A>G	ENSP00000482595.1:n.1600-10A>G
NM_003126.2:c.1600-10A>G	NP_003117.2:n.1600-10A>G
XM_011509916.1:c.1600-10A>G	XP_011508218.1:n.1600-10A>G
XM_011509917.1:c.1600-10A>G	XP_011508219.1:n.1600-10A>G
XM_011509918.1:c.1600-10A>G	XP_011508220.1:n.1600-10A>G
XM_011509919.1:c.1600-10A>G	XP_011508221.1:n.1600-10A>G
XR_921911.1:n.1713-10A>G
XR_921912.1:n.1718-10A>G
NM_003126.3:c.1600-10A>G	NP_003117.2:n.1600-10A>G
XM_011509916.2:c.1600-10A>G	XP_011508218.1:n.1600-10A>G
XM_011509917.3:c.1600-10A>G	XP_011508219.1:n.1600-10A>G
XM_011509918.3:c.1600-10A>G	XP_011508220.1:n.1600-10A>G
XM_011509919.3:c.1600-10A>G	XP_011508221.1:n.1600-10A>G
XR_921911.3:n.1726-10A>G
XR_921912.2:n.1728-10A>G
NM_003126.4:c.1600-10A>G MANE Select	NP_003117.2:n.1600-10A>G