Canonical Allele Identifier: CA1181949

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 258954
• ClinVar RCV Id: RCV000249337 ; RCV000296410 ; RCV000344309 ; RCV000388225 ; RCV001003793 ; RCV001610635
• dbSNP Id: rs28525570
• ExAC: 1:158587858 G / A
• gnomAD v2: 1-158587858-G-A
• gnomAD v3: 1-158618068-G-A
• gnomAD v4: 1-158618068-G-A
• MyVariant Identifiers: chr1:g.158587858G>A (hg19) ; chr1:g.158618068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158618068G>A , CM000663.2:g.158618068G>A	GRCh38
NC_000001.10:g.158587858G>A , CM000663.1:g.158587858G>A	GRCh37
NC_000001.9:g.156854482G>A	NCBI36
NG_011474.1:g.73649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6531-12C>T MANE Select	ENSP00000495214.1:n.6531-12C>T
ENST00000368147.8:c.6531-12C>T	ENSP00000357129.4:n.6531-12C>T
ENST00000492934.1:n.34C>T
ENST00000614909.4:c.6531-12C>T	ENSP00000482595.1:n.6531-12C>T
NM_003126.2:c.6531-12C>T	NP_003117.2:n.6531-12C>T
XM_011509916.1:c.6531-12C>T	XP_011508218.1:n.6531-12C>T
XM_011509917.1:c.6531-480C>T	XP_011508219.1:n.6531-480C>T
NM_003126.3:c.6531-12C>T	NP_003117.2:n.6531-12C>T
XM_011509916.2:c.6531-12C>T	XP_011508218.1:n.6531-12C>T
XM_011509917.3:c.6531-480C>T	XP_011508219.1:n.6531-480C>T
NM_003126.4:c.6531-12C>T MANE Select	NP_003117.2:n.6531-12C>T