Canonical Allele Identifier: CA32889616

Gene: PRRX1

Linked Data

• dbSNP Id: rs546896164
• gnomAD v2: 1-170633840-A-G
• gnomAD v3: 1-170664699-A-G
• gnomAD v4: 1-170664699-A-G
• MyVariant Identifiers: chr1:g.170633840A>G (hg19) ; chr1:g.170664699A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170664699A>G , CM000663.2:g.170664699A>G	GRCh38
NC_000001.10:g.170633840A>G , CM000663.1:g.170633840A>G	GRCh37
NC_000001.9:g.168900464A>G	NCBI36
NG_031856.2:g.5528A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239461.11:c.241+240A>G MANE Select	ENSP00000239461.6:n.241+240A>G
ENST00000239461.10:c.241+240A>G	ENSP00000239461.6:n.241+240A>G
ENST00000367760.7:c.241+240A>G	ENSP00000356734.3:n.241+240A>G
ENST00000497230.2:c.241+240A>G	ENSP00000450762.1:n.241+240A>G
ENST00000553786.1:n.351+240A>G
NM_006902.4:c.241+240A>G	NP_008833.1:n.241+240A>G
NM_022716.3:c.241+240A>G	NP_073207.1:n.241+240A>G
XM_006711388.2:c.100+240A>G	XP_006711451.1:n.100+240A>G
XM_006711388.3:c.100+240A>G	XP_006711451.1:n.100+240A>G
NM_022716.4:c.241+240A>G MANE Select	NP_073207.1:n.241+240A>G
NM_006902.5:c.241+240A>G	NP_008833.1:n.241+240A>G