Canonical Allele Identifier: CA389490807

Gene: PRORP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35270430C>T , CM000676.2:g.35270430C>T	GRCh38
NC_000014.8:g.35739636C>T , CM000676.1:g.35739636C>T	GRCh37
NC_000014.7:g.34809387C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014672.4:c.1454C>T MANE Select	NP_055487.2:p.Ala485Val
ENST00000534898.9:c.1454C>T MANE Select	ENSP00000440915.2:p.Ala485Val
NM_001256678.1:c.1406C>T	NP_001243607.1:p.Ala469Val
NM_001256678.2:c.1406C>T	NP_001243607.1:p.Ala469Val
NM_001256679.1:c.1169C>T	NP_001243608.1:p.Ala390Val
NM_001256679.2:c.1169C>T	NP_001243608.1:p.Ala390Val
NM_001256680.1:c.338C>T	NP_001243609.1:p.Ala113Val
NM_001256680.2:c.338C>T	NP_001243609.1:p.Ala113Val
NM_001256681.1:c.338C>T	NP_001243610.1:p.Ala113Val
NM_001256681.2:c.338C>T	NP_001243610.1:p.Ala113Val
NM_014672.3:c.1454C>T	NP_055487.2:p.Ala485Val
ENST00000250377.11:c.1406C>T	ENSP00000250377.8:p.Ala469Val
ENST00000321130.14:c.338C>T	ENSP00000324697.9:p.Ala113Val
ENST00000534898.8:c.1454C>T	ENSP00000440915.2:p.Ala485Val
ENST00000557404.3:c.338C>T	ENSP00000450898.3:p.Ala113Val
ENST00000557565.1:c.1454C>T	ENSP00000454657.1:p.Ala485Val
ENST00000603544.5:c.1406C>T	ENSP00000473856.1:p.Ala469Val
ENST00000604948.5:c.1169C>T	ENSP00000474620.1:p.Ala390Val
ENST00000605870.5:c.338C>T	ENSP00000474299.1:p.Ala113Val
XM_005268237.2:c.1454C>T	XP_005268294.1:p.Ala485Val
XM_005268237.3:c.1454C>T	XP_005268294.1:p.Ala485Val
XM_011537409.1:c.1454C>T	XP_011535711.1:p.Ala485Val
XM_011537410.1:c.1454C>T	XP_011535712.1:p.Ala485Val
XM_011537410.2:c.1454C>T	XP_011535712.1:p.Ala485Val
XM_011537411.1:c.1454C>T	XP_011535713.1:p.Ala485Val
XM_017021836.1:c.1406C>T	XP_016877325.1:p.Ala469Val