Canonical Allele Identifier: CA1182059

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292956
• ClinVar RCV Id: RCV000283382 ; RCV000340796 ; RCV000378935 ; RCV000891444
• dbSNP Id: rs186987240
• ExAC: 1:158590245 C / G
• gnomAD v2: 1-158590245-C-G
• gnomAD v3: 1-158620455-C-G
• gnomAD v4: 1-158620455-C-G
• MyVariant Identifiers: chr1:g.158590245C>G (hg19) ; chr1:g.158620455C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158620455C>G , CM000663.2:g.158620455C>G	GRCh38
NC_000001.10:g.158590245C>G , CM000663.1:g.158590245C>G	GRCh37
NC_000001.9:g.156856869C>G	NCBI36
NG_011474.1:g.71262G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6132G>C MANE Select	ENSP00000495214.1:p.Leu2044=
ENST00000368147.8:c.6132G>C	ENSP00000357129.4:p.Leu2044=
ENST00000484520.1:n.335G>C
ENST00000614909.4:c.6132G>C	ENSP00000482595.1:p.Leu2044=
NM_003126.2:c.6132G>C	NP_003117.2:p.Leu2044=
XM_011509916.1:c.6132G>C	XP_011508218.1:p.Leu2044=
XM_011509917.1:c.6132G>C	XP_011508219.1:p.Leu2044=
XM_011509918.1:c.*24G>C	XP_011508220.1:n.*24G>C
NM_003126.3:c.6132G>C	NP_003117.2:p.Leu2044=
XM_011509916.2:c.6132G>C	XP_011508218.1:p.Leu2044=
XM_011509917.3:c.6132G>C	XP_011508219.1:p.Leu2044=
XM_011509918.3:c.*24G>C	XP_011508220.1:n.*24G>C
NM_003126.4:c.6132G>C MANE Select	NP_003117.2:p.Leu2044=