Canonical Allele Identifier: CA2568687033

Gene: SIPA1

Linked Data

• gnomAD v3: 11-65644610-T-G
• gnomAD v4: 11-65644610-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65644610T>G , CM000673.2:g.65644610T>G	GRCh38
NC_000011.9:g.65412081T>G , CM000673.1:g.65412081T>G	GRCh37
NC_000011.8:g.65168657T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534313.6:c.985-345T>G MANE Select	ENSP00000436269.1:n.985-345T>G
ENST00000394224.3:c.985-345T>G	ENSP00000377771.3:n.985-345T>G
ENST00000394227.7:c.985-345T>G	ENSP00000377774.4:n.985-345T>G
ENST00000527525.5:c.985-345T>G	ENSP00000433686.1:n.985-345T>G
ENST00000534313.5:c.985-345T>G	ENSP00000436269.1:n.985-345T>G
ENST00000628801.2:c.985-345T>G	ENSP00000485899.1:n.985-345T>G
NM_006747.3:c.985-345T>G	NP_006738.3:n.985-345T>G
NM_153253.29:c.985-345T>G	NP_694985.29:n.985-345T>G
XM_005274189.2:c.985-345T>G	XP_005274246.1:n.985-345T>G
XM_011545214.1:c.985-345T>G	XP_011543516.1:n.985-345T>G
XR_247210.2:n.1094-345T>G
XR_950017.1:n.1094-345T>G
NM_006747.4:c.985-345T>G MANE Select	NP_006738.3:n.985-345T>G
NM_153253.30:c.985-345T>G	NP_694985.29:n.985-345T>G