Canonical Allele Identifier: CA13956526

Gene: PRORP

Linked Data

• dbSNP Id: rs12586317
• gnomAD v2: 14-35682172-T-C
• gnomAD v3: 14-35212966-T-C
• gnomAD v4: 14-35212966-T-C
• MyVariant Identifiers: chr14:g.35682172T>C (hg19) ; chr14:g.35212966T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35212966T>C , CM000676.2:g.35212966T>C	GRCh38
NC_000014.8:g.35682172T>C , CM000676.1:g.35682172T>C	GRCh37
NC_000014.7:g.34751923T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000534898.9:c.1275+32189T>C MANE Select	ENSP00000440915.2:n.1275+32189T>C
ENST00000250377.11:c.1227+32189T>C	ENSP00000250377.8:n.1227+32189T>C
ENST00000321130.14:c.159+32189T>C	ENSP00000324697.9:n.159+32189T>C
ENST00000534898.8:c.1275+32189T>C	ENSP00000440915.2:n.1275+32189T>C
ENST00000557404.3:c.159+32189T>C	ENSP00000450898.3:n.159+32189T>C
ENST00000557565.1:c.1275+32189T>C	ENSP00000454657.1:n.1275+32189T>C
ENST00000603544.5:c.1227+32189T>C	ENSP00000473856.1:n.1227+32189T>C
ENST00000604948.5:c.990+32189T>C	ENSP00000474620.1:n.990+32189T>C
ENST00000605870.5:c.159+32189T>C	ENSP00000474299.1:n.159+32189T>C
NM_001256678.1:c.1227+32189T>C	NP_001243607.1:n.1227+32189T>C
NM_001256679.1:c.990+32189T>C	NP_001243608.1:n.990+32189T>C
NM_001256680.1:c.159+32189T>C	NP_001243609.1:n.159+32189T>C
NM_001256681.1:c.159+32189T>C	NP_001243610.1:n.159+32189T>C
NM_014672.3:c.1275+32189T>C	NP_055487.2:n.1275+32189T>C
XM_005268237.2:c.1275+32189T>C	XP_005268294.1:n.1275+32189T>C
XM_011537409.1:c.1275+32189T>C	XP_011535711.1:n.1275+32189T>C
XM_011537410.1:c.1275+32189T>C	XP_011535712.1:n.1275+32189T>C
XM_011537411.1:c.1275+32189T>C	XP_011535713.1:n.1275+32189T>C
XM_005268237.3:c.1275+32189T>C	XP_005268294.1:n.1275+32189T>C
XM_011537410.2:c.1275+32189T>C	XP_011535712.1:n.1275+32189T>C
XM_017021836.1:c.1227+32189T>C	XP_016877325.1:n.1227+32189T>C
NM_001256678.2:c.1227+32189T>C	NP_001243607.1:n.1227+32189T>C
NM_001256679.2:c.990+32189T>C	NP_001243608.1:n.990+32189T>C
NM_001256680.2:c.159+32189T>C	NP_001243609.1:n.159+32189T>C
NM_014672.4:c.1275+32189T>C MANE Select	NP_055487.2:n.1275+32189T>C
NM_001256681.2:c.159+32189T>C	NP_001243610.1:n.159+32189T>C