Canonical Allele Identifier: CA10691534

Gene: PRRX1

Linked Data

• dbSNP Id: rs659580
• gnomAD v2: 1-170633896-T-C
• gnomAD v3: 1-170664755-T-C
• gnomAD v4: 1-170664755-T-C
• MyVariant Identifiers: chr1:g.170633896T>C (hg19) ; chr1:g.170664755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170664755T>C , CM000663.2:g.170664755T>C	GRCh38
NC_000001.10:g.170633896T>C , CM000663.1:g.170633896T>C	GRCh37
NC_000001.9:g.168900520T>C	NCBI36
NG_031856.2:g.5584T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000239461.11:c.241+296T>C MANE Select	ENSP00000239461.6:n.241+296T>C
ENST00000239461.10:c.241+296T>C	ENSP00000239461.6:n.241+296T>C
ENST00000367760.7:c.241+296T>C	ENSP00000356734.3:n.241+296T>C
ENST00000497230.2:c.241+296T>C	ENSP00000450762.1:n.241+296T>C
ENST00000553786.1:n.351+296T>C
NM_006902.4:c.241+296T>C	NP_008833.1:n.241+296T>C
NM_022716.3:c.241+296T>C	NP_073207.1:n.241+296T>C
XM_006711388.2:c.100+296T>C	XP_006711451.1:n.100+296T>C
XM_006711388.3:c.100+296T>C	XP_006711451.1:n.100+296T>C
NM_022716.4:c.241+296T>C MANE Select	NP_073207.1:n.241+296T>C
NM_006902.5:c.241+296T>C	NP_008833.1:n.241+296T>C