Canonical Allele Identifier: CA353049141

Gene: POC1A

Linked Data

• ClinVar Variation Id: 1371335
• ClinVar RCV Id: RCV001864511
• dbSNP Id: rs2106973437
• MyVariant Identifiers: chr3:g.52130601A>G (hg19) ; chr3:g.52096585A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52096585A>G , CM000665.2:g.52096585A>G	GRCh38
NC_000003.11:g.52130601A>G , CM000665.1:g.52130601A>G	GRCh37
NC_000003.10:g.52105641A>G	NCBI36
NG_032947.1:g.63106T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296484.7:c.1109T>C MANE Select	ENSP00000296484.2:p.Leu370Pro
ENST00000296484.6:c.1109T>C	ENSP00000296484.2:p.Leu370Pro
ENST00000394970.6:c.982-20600T>C	ENSP00000378421.2:n.982-20600T>C
ENST00000474012.1:c.995T>C	ENSP00000418968.1:p.Leu332Pro
NM_001161580.1:c.982-20600T>C	NP_001155052.1:n.982-20600T>C
NM_001161581.1:c.995T>C	NP_001155053.1:p.Leu332Pro
NM_015426.4:c.1109T>C	NP_056241.3:p.Leu370Pro
XM_011533560.1:c.1010T>C	XP_011531862.1:p.Leu337Pro
XM_011533561.1:c.883-20600T>C	XP_011531863.1:n.883-20600T>C
XM_011533564.1:c.*8-20600T>C	XP_011531866.1:n.*8-20600T>C
XR_940402.1:n.1015T>C
XR_940403.1:n.888-20600T>C
XM_011533564.3:c.*8-20600T>C	XP_011531866.1:n.*8-20600T>C
XM_017006104.1:c.868-20600T>C	XP_016861593.1:n.868-20600T>C
XR_001740088.1:n.1391T>C
NM_001161580.2:c.982-20600T>C	NP_001155052.1:n.982-20600T>C
NM_001161581.2:c.995T>C	NP_001155053.1:p.Leu332Pro
NM_015426.5:c.1109T>C MANE Select	NP_056241.3:p.Leu370Pro