Canonical Allele Identifier: CA259669

Gene: PRRX1

Linked Data

• ClinVar Variation Id: 29825
• ClinVar RCV Id: RCV000022701
• dbSNP Id: rs387906667
• MyVariant Identifiers: chr1:g.170688963T>C (hg19) ; chr1:g.170719822T>C (hg38)
• PubMed: PMID:12244557 ; PMID:21294718

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170719822T>C , CM000663.2:g.170719822T>C	GRCh38
NC_000001.10:g.170688963T>C , CM000663.1:g.170688963T>C	GRCh37
NC_000001.9:g.168955587T>C	NCBI36
NG_031856.2:g.60651T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239461.11:c.338T>C MANE Select	ENSP00000239461.6:p.Phe113Ser
ENST00000239461.10:c.338T>C	ENSP00000239461.6:p.Phe113Ser
ENST00000367760.7:c.338T>C	ENSP00000356734.3:p.Phe113Ser
ENST00000497230.2:c.338T>C	ENSP00000450762.1:p.Phe113Ser
ENST00000553786.1:n.448T>C
NM_006902.4:c.338T>C	NP_008833.1:p.Phe113Ser
NM_022716.3:c.338T>C	NP_073207.1:p.Phe113Ser
XM_006711388.2:c.197T>C	XP_006711451.1:p.Phe66Ser
XM_006711388.3:c.197T>C	XP_006711451.1:p.Phe66Ser
NM_022716.4:c.338T>C MANE Select	NP_073207.1:p.Phe113Ser
NM_006902.5:c.338T>C	NP_008833.1:p.Phe113Ser