Canonical Allele Identifier: CA346472904

Gene: PCARE

Linked Data

• MyVariant Identifiers: chr2:g.29293568A>T (hg19) ; chr2:g.29070702A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070702A>T , CM000664.2:g.29070702A>T	GRCh38
NC_000002.11:g.29293568A>T , CM000664.1:g.29293568A>T	GRCh37
NC_000002.10:g.29147072A>T	NCBI36
NG_021427.1:g.8560T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3560T>A MANE Select	ENSP00000332809.4:p.Leu1187Gln
ENST00000331664.5:c.3560T>A	ENSP00000332809.4:p.Leu1187Gln
NM_001029883.2:c.3560T>A	NP_001025054.1:p.Leu1187Gln
XM_011532826.1:c.3560T>A	XP_011531128.1:p.Leu1187Gln
XR_939901.1:n.185+1535A>T
XR_939902.1:n.173+1547A>T
NM_001029883.3:c.3560T>A MANE Select	NP_001025054.1:p.Leu1187Gln