Canonical Allele Identifier: CA381352665

Gene: SIPA1

Linked Data

• dbSNP Id: rs3741378
• gnomAD v3: 11-65641466-C-G
• gnomAD v4: 11-65641466-C-G
• MyVariant Identifiers: chr11:g.65408937C>G (hg19) ; chr11:g.65641466C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65641466C>G , CM000673.2:g.65641466C>G	GRCh38
NC_000011.9:g.65408937C>G , CM000673.1:g.65408937C>G	GRCh37
NC_000011.8:g.65165513C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000534313.6:c.545C>G MANE Select	ENSP00000436269.1:p.Ser182Cys
ENST00000394224.3:c.545C>G	ENSP00000377771.3:p.Ser182Cys
ENST00000394227.7:c.545C>G	ENSP00000377774.4:p.Ser182Cys
ENST00000527525.5:c.545C>G	ENSP00000433686.1:p.Ser182Cys
ENST00000534313.5:c.545C>G	ENSP00000436269.1:p.Ser182Cys
ENST00000628801.2:c.545C>G	ENSP00000485899.1:p.Ser182Cys
NM_006747.3:c.545C>G	NP_006738.3:p.Ser182Cys
NM_153253.29:c.545C>G	NP_694985.29:p.Ser182Cys
XM_005274189.2:c.545C>G	XP_005274246.1:p.Ser182Cys
XM_011545214.1:c.545C>G	XP_011543516.1:p.Ser182Cys
XR_247210.2:n.654C>G
XR_950017.1:n.654C>G
NM_006747.4:c.545C>G MANE Select	NP_006738.3:p.Ser182Cys
NM_153253.30:c.545C>G	NP_694985.29:p.Ser182Cys