Canonical Allele Identifier: CA381350390
Community Standard Title: NM_006747.4(SIPA1):c.316G>A (p.Ala106Thr)
Gene: SIPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65641237G>A , CM000673.2:g.65641237G>A GRCh38
NC_000011.9:g.65408708G>A , CM000673.1:g.65408708G>A GRCh37
NC_000011.8:g.65165284G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006747.4:c.316G>A MANE Select NP_006738.3:p.Ala106Thr
ENST00000534313.6:c.316G>A MANE Select ENSP00000436269.1:p.Ala106Thr
NM_006747.3:c.316G>A NP_006738.3:p.Ala106Thr
NM_153253.29:c.316G>A NP_694985.29:p.Ala106Thr
NM_153253.30:c.316G>A NP_694985.29:p.Ala106Thr
ENST00000394224.3:c.316G>A ENSP00000377771.3:p.Ala106Thr
ENST00000394227.7:c.316G>A ENSP00000377774.4:p.Ala106Thr
ENST00000527525.5:c.316G>A ENSP00000433686.1:p.Ala106Thr
ENST00000534313.5:c.316G>A ENSP00000436269.1:p.Ala106Thr
ENST00000628801.2:c.316G>A ENSP00000485899.1:p.Ala106Thr
XM_005274189.2:c.316G>A XP_005274246.1:p.Ala106Thr
XM_011545214.1:c.316G>A XP_011543516.1:p.Ala106Thr
XR_247210.2:n.425G>A
XR_950017.1:n.425G>A