Canonical Allele Identifier: CA343207467
Community Standard Title: NM_022716.4(PRRX1):c.551C>T (p.Ala184Val)
Gene: PRRX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.170726353C>T , CM000663.2:g.170726353C>T GRCh38
NC_000001.10:g.170695494C>T , CM000663.1:g.170695494C>T GRCh37
NC_000001.9:g.168962118C>T NCBI36
NG_031856.2:g.67182C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022716.4:c.551C>T MANE Select NP_073207.1:p.Ala184Val
ENST00000239461.11:c.551C>T MANE Select ENSP00000239461.6:p.Ala184Val
NM_006902.4:c.551C>T NP_008833.1:p.Ala184Val
NM_006902.5:c.551C>T NP_008833.1:p.Ala184Val
NM_022716.3:c.551C>T NP_073207.1:p.Ala184Val
ENST00000239461.10:c.551C>T ENSP00000239461.6:p.Ala184Val
ENST00000367760.7:c.551C>T ENSP00000356734.3:p.Ala184Val
ENST00000476867.6:n.186C>T
ENST00000495280.5:n.158C>T
ENST00000497230.2:c.551C>T ENSP00000450762.1:p.Ala184Val
XM_006711388.2:c.410C>T XP_006711451.1:p.Ala137Val
XM_006711388.3:c.410C>T XP_006711451.1:p.Ala137Val