Canonical Allele Identifier: CA385375600

Gene: PRIM1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56741544C>A , CM000674.2:g.56741544C>A	GRCh38
NC_000012.11:g.57135328C>A , CM000674.1:g.57135328C>A	GRCh37
NC_000012.10:g.55421595C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_000946.3:c.873G>T MANE Select	NP_000937.1:p.Trp291Cys
ENST00000338193.11:c.873G>T MANE Select	ENSP00000350491.5:p.Trp291Cys
NM_000946.2:c.873G>T	NP_000937.1:p.Trp291Cys
ENST00000338193.10:c.873G>T	ENSP00000350491.5:p.Trp291Cys
ENST00000549549.1:c.216G>T	ENSP00000449806.1:p.Trp72Cys
ENST00000550770.1:c.882G>T	ENSP00000450185.1:p.Trp294Cys
ENST00000552590.6:c.*317G>T	ENSP00000448178.1:n.*317G>T
ENST00000672280.1:c.873G>T	ENSP00000500157.1:p.Trp291Cys
ENST00000706566.1:c.873G>T	ENSP00000516451.1:p.Trp291Cys
ENST00000706567.1:c.873G>T	ENSP00000516452.1:p.Trp291Cys