Canonical Allele Identifier: CA1184261

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 293060
• ClinVar RCV Id: RCV000294265 ; RCV000349158 ; RCV000405093 ; RCV000658527 ; RCV004549643
• dbSNP Id: rs199690643
• ExAC: 1:158655108 C / T
• gnomAD v2: 1-158655108-C-T
• gnomAD v3: 1-158685318-C-T
• gnomAD v4: 1-158685318-C-T
• MyVariant Identifiers: chr1:g.158655108C>T (hg19) ; chr1:g.158685318C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685318C>T , CM000663.2:g.158685318C>T	GRCh38
NC_000001.10:g.158655108C>T , CM000663.1:g.158655108C>T	GRCh37
NC_000001.9:g.156921732C>T	NCBI36
NG_011474.1:g.6399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.54G>A MANE Select	ENSP00000495214.1:p.Leu18=
ENST00000368147.8:c.54G>A	ENSP00000357129.4:p.Leu18=
ENST00000467387.1:c.54G>A	ENSP00000476485.1:p.Leu18=
ENST00000614909.4:c.54G>A	ENSP00000482595.1:p.Leu18=
NM_003126.2:c.54G>A	NP_003117.2:p.Leu18=
XM_011509916.1:c.54G>A	XP_011508218.1:p.Leu18=
XM_011509917.1:c.54G>A	XP_011508219.1:p.Leu18=
XM_011509918.1:c.54G>A	XP_011508220.1:p.Leu18=
XM_011509919.1:c.54G>A	XP_011508221.1:p.Leu18=
XR_921911.1:n.167G>A
XR_921912.1:n.172G>A
NM_003126.3:c.54G>A	NP_003117.2:p.Leu18=
XM_011509916.2:c.54G>A	XP_011508218.1:p.Leu18=
XM_011509917.3:c.54G>A	XP_011508219.1:p.Leu18=
XM_011509918.3:c.54G>A	XP_011508220.1:p.Leu18=
XM_011509919.3:c.54G>A	XP_011508221.1:p.Leu18=
XR_921911.3:n.180G>A
XR_921912.2:n.182G>A
NM_003126.4:c.54G>A MANE Select	NP_003117.2:p.Leu18=