Canonical Allele Identifier: CA235494263

Gene: PRICKLE1

Linked Data

• dbSNP Id: rs532372933
• gnomAD v2: 12-42863506-A-G
• gnomAD v3: 12-42469704-A-G
• gnomAD v4: 12-42469704-A-G
• MyVariant Identifiers: chr12:g.42863506A>G (hg19) ; chr12:g.42469704A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.42469704A>G , CM000674.2:g.42469704A>G	GRCh38
NC_000012.11:g.42863506A>G , CM000674.1:g.42863506A>G	GRCh37
NC_000012.10:g.41149773A>G	NCBI36
NG_012965.1:g.125067T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345127.9:c.247-117T>C MANE Select	ENSP00000345064.3:n.247-117T>C
ENST00000445766.7:c.247-117T>C	ENSP00000398947.2:n.247-117T>C
ENST00000455697.6:c.247-117T>C	ENSP00000401060.1:n.247-117T>C
ENST00000548696.6:c.247-117T>C	ENSP00000448359.1:n.247-117T>C
ENST00000551050.6:c.247-117T>C	ENSP00000446970.1:n.247-117T>C
ENST00000552108.6:c.247-117T>C	ENSP00000447870.2:n.247-117T>C
ENST00000552240.6:c.247-117T>C	ENSP00000449819.1:n.247-117T>C
ENST00000639566.1:c.247-117T>C	ENSP00000492332.1:n.247-117T>C
ENST00000639589.1:c.247-117T>C	ENSP00000491051.1:n.247-117T>C
ENST00000639958.1:c.247-117T>C	ENSP00000492644.1:n.247-117T>C
ENST00000640055.1:c.247-117T>C	ENSP00000492763.1:n.247-117T>C
ENST00000640132.1:c.247-117T>C	ENSP00000491228.1:n.247-117T>C
ENST00000640646.1:c.247-117T>C	ENSP00000492483.1:n.247-117T>C
ENST00000640801.1:c.247-117T>C	ENSP00000491473.1:n.247-117T>C
ENST00000345127.7:c.247-117T>C	ENSP00000345064.3:n.247-117T>C
ENST00000445766.6:c.247-117T>C	ENSP00000398947.2:n.247-117T>C
ENST00000455697.5:c.247-117T>C	ENSP00000401060.1:n.247-117T>C
ENST00000547113.1:c.247-117T>C	ENSP00000446699.1:n.247-117T>C
ENST00000548696.5:c.247-117T>C	ENSP00000448359.1:n.247-117T>C
ENST00000551050.5:c.247-117T>C	ENSP00000446970.1:n.247-117T>C
ENST00000552108.5:c.247-117T>C	ENSP00000447870.1:n.247-117T>C
ENST00000552240.5:c.247-117T>C	ENSP00000449819.1:n.247-117T>C
NM_001144881.1:c.247-117T>C	NP_001138353.1:n.247-117T>C
NM_001144882.1:c.247-117T>C	NP_001138354.1:n.247-117T>C
NM_001144883.1:c.247-117T>C	NP_001138355.1:n.247-117T>C
NM_153026.2:c.247-117T>C	NP_694571.2:n.247-117T>C
XM_011537946.1:c.247-117T>C	XP_011536248.1:n.247-117T>C
XM_011537947.1:c.247-117T>C	XP_011536249.1:n.247-117T>C
XM_011537947.2:c.247-117T>C	XP_011536249.1:n.247-117T>C
XM_017018838.1:c.247-117T>C	XP_016874327.1:n.247-117T>C
XM_017018839.1:c.247-117T>C	XP_016874328.1:n.247-117T>C
XM_017018840.1:c.247-117T>C	XP_016874329.1:n.247-117T>C
NM_153026.3:c.247-117T>C MANE Select	NP_694571.2:n.247-117T>C
NM_001144881.2:c.247-117T>C	NP_001138353.1:n.247-117T>C
NM_001144882.2:c.247-117T>C	NP_001138354.1:n.247-117T>C
NM_001144883.2:c.247-117T>C	NP_001138355.1:n.247-117T>C