Canonical Allele Identifier: CA891005902

Gene: PRRX1

Linked Data

• dbSNP Id: rs1441040981
• gnomAD v3: 1-170664820-G-C
• gnomAD v4: 1-170664820-G-C
• MyVariant Identifiers: chr1:g.170633961G>C (hg19) ; chr1:g.170664820G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170664820G>C , CM000663.2:g.170664820G>C	GRCh38
NC_000001.10:g.170633961G>C , CM000663.1:g.170633961G>C	GRCh37
NC_000001.9:g.168900585G>C	NCBI36
NG_031856.2:g.5649G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239461.11:c.241+361G>C MANE Select	ENSP00000239461.6:n.241+361G>C
ENST00000239461.10:c.241+361G>C	ENSP00000239461.6:n.241+361G>C
ENST00000367760.7:c.241+361G>C	ENSP00000356734.3:n.241+361G>C
ENST00000497230.2:c.241+361G>C	ENSP00000450762.1:n.241+361G>C
ENST00000553786.1:n.351+361G>C
NM_006902.4:c.241+361G>C	NP_008833.1:n.241+361G>C
NM_022716.3:c.241+361G>C	NP_073207.1:n.241+361G>C
XM_006711388.2:c.100+361G>C	XP_006711451.1:n.100+361G>C
XM_006711388.3:c.100+361G>C	XP_006711451.1:n.100+361G>C
NM_022716.4:c.241+361G>C MANE Select	NP_073207.1:n.241+361G>C
NM_006902.5:c.241+361G>C	NP_008833.1:n.241+361G>C