Canonical Allele Identifier: CA39838654

Gene: SIPA1L2

Linked Data

• dbSNP Id: rs765697801
• gnomAD v3: 1-232620291-G-T
• gnomAD v4: 1-232620291-G-T
• MyVariant Identifiers: chr1:g.232756037G>T (hg19) ; chr1:g.232620291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.232620291G>T , CM000663.2:g.232620291G>T	GRCh38
NC_000001.10:g.232756037G>T , CM000663.1:g.232756037G>T	GRCh37
NC_000001.9:g.230822660G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000674635.1:c.-319+9578C>A MANE Select	ENSP00000502693.1:n.-319+9578C>A
ENST00000674749.1:c.-575+9578C>A	ENSP00000502328.1:n.-575+9578C>A
ENST00000674801.1:c.-319+10139C>A	ENSP00000502186.1:n.-319+10139C>A
ENST00000675407.1:c.-396+9578C>A	ENSP00000502580.1:n.-396+9578C>A
ENST00000675685.1:c.-319+10139C>A	ENSP00000501553.1:n.-319+10139C>A
ENST00000676213.1:c.-270+10139C>A	ENSP00000501897.1:n.-270+10139C>A
XM_005273211.1:c.-319+9578C>A	XP_005273268.1:n.-319+9578C>A
XM_005273212.3:c.-347+9578C>A	XP_005273269.1:n.-347+9578C>A
XM_005273213.3:c.-270+9578C>A	XP_005273270.1:n.-270+9578C>A
XM_006711798.2:c.-413+9578C>A	XP_006711861.1:n.-413+9578C>A
XM_011544242.1:c.-490+9578C>A	XP_011542544.1:n.-490+9578C>A
XM_011544243.1:c.-396+9578C>A	XP_011542545.1:n.-396+9578C>A
XM_011544244.1:c.-270+10139C>A	XP_011542546.1:n.-270+10139C>A
XM_011544245.1:c.-490+9578C>A	XP_011542547.1:n.-490+9578C>A
XM_005273211.2:c.-319+9578C>A	XP_005273268.1:n.-319+9578C>A
XM_005273212.4:c.-347+9578C>A	XP_005273269.1:n.-347+9578C>A
XM_005273213.4:c.-270+9578C>A	XP_005273270.1:n.-270+9578C>A
XM_011544243.2:c.-396+9578C>A	XP_011542545.1:n.-396+9578C>A
XM_017001896.1:c.-319+10139C>A	XP_016857385.1:n.-319+10139C>A
XM_017001897.2:c.-319+9578C>A	XP_016857386.1:n.-319+9578C>A
XM_017001898.2:c.-319+10139C>A	XP_016857387.1:n.-319+10139C>A
NM_001377488.1:c.-319+10139C>A	NP_001364417.1:n.-319+10139C>A
NM_020808.5:c.-319+9578C>A MANE Select	NP_065859.3:n.-319+9578C>A