Canonical Allele Identifier: CA1181979

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 258953
• ClinVar RCV Id: RCV000244790 ; RCV000302916 ; RCV000359954 ; RCV000395816 ; RCV000756690
• dbSNP Id: rs138055271
• ExAC: 1:158589105 T / C
• gnomAD v2: 1-158589105-T-C
• gnomAD v3: 1-158619315-T-C
• gnomAD v4: 1-158619315-T-C
• MyVariant Identifiers: chr1:g.158589105T>C (hg19) ; chr1:g.158619315T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158619315T>C , CM000663.2:g.158619315T>C	GRCh38
NC_000001.10:g.158589105T>C , CM000663.1:g.158589105T>C	GRCh37
NC_000001.9:g.156855729T>C	NCBI36
NG_011474.1:g.72402A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6437A>G MANE Select	ENSP00000495214.1:p.Gln2146Arg
ENST00000368147.8:c.6437A>G	ENSP00000357129.4:p.Gln2146Arg
ENST00000484520.1:n.640A>G
ENST00000614909.4:c.6437A>G	ENSP00000482595.1:p.Gln2146Arg
NM_003126.2:c.6437A>G	NP_003117.2:p.Gln2146Arg
XM_011509916.1:c.6437A>G	XP_011508218.1:p.Gln2146Arg
XM_011509917.1:c.6437A>G	XP_011508219.1:p.Gln2146Arg
NM_003126.3:c.6437A>G	NP_003117.2:p.Gln2146Arg
XM_011509916.2:c.6437A>G	XP_011508218.1:p.Gln2146Arg
XM_011509917.3:c.6437A>G	XP_011508219.1:p.Gln2146Arg
NM_003126.4:c.6437A>G MANE Select	NP_003117.2:p.Gln2146Arg