Canonical Allele Identifier: CA122754
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12851
ClinVar RCV Id: RCV000013705 RCV001004905
dbSNP Id: rs121918639
MyVariant Identifiers: chr1:g.158655017G>A (hg19) chr1:g.158685227G>A (hg38)
PubMed: PMID:2384601 PMID:2568861
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158685227G>A , CM000663.2:g.158685227G>A GRCh38
NC_000001.10:g.158655017G>A , CM000663.1:g.158655017G>A GRCh37
NC_000001.9:g.156921641G>A NCBI36
NG_011474.1:g.6490C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643759.2:c.145C>T MANE Select ENSP00000495214.1:p.Leu49Phe
ENST00000368147.8:c.145C>T ENSP00000357129.4:p.Leu49Phe
ENST00000467387.1:c.132+13C>T ENSP00000476485.1:n.132+13C>T
ENST00000614909.4:c.145C>T ENSP00000482595.1:p.Leu49Phe
NM_003126.2:c.145C>T NP_003117.2:p.Leu49Phe
XM_011509916.1:c.145C>T XP_011508218.1:p.Leu49Phe
XM_011509917.1:c.145C>T XP_011508219.1:p.Leu49Phe
XM_011509918.1:c.145C>T XP_011508220.1:p.Leu49Phe
XM_011509919.1:c.145C>T XP_011508221.1:p.Leu49Phe
XR_921911.1:n.258C>T
XR_921912.1:n.263C>T
NM_003126.3:c.145C>T NP_003117.2:p.Leu49Phe
XM_011509916.2:c.145C>T XP_011508218.1:p.Leu49Phe
XM_011509917.3:c.145C>T XP_011508219.1:p.Leu49Phe
XM_011509918.3:c.145C>T XP_011508220.1:p.Leu49Phe
XM_011509919.3:c.145C>T XP_011508221.1:p.Leu49Phe
XR_921911.3:n.271C>T
XR_921912.2:n.273C>T
NM_003126.4:c.145C>T MANE Select NP_003117.2:p.Leu49Phe
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