Canonical Allele Identifier: CA353055300

Gene: POC1A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52122378C>T , CM000665.2:g.52122378C>T	GRCh38
NC_000003.11:g.52156394C>T , CM000665.1:g.52156394C>T	GRCh37
NC_000003.10:g.52131434C>T	NCBI36
NG_032947.1:g.37313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296484.7:c.981+1G>A MANE Select	ENSP00000296484.2:n.981+1G>A
ENST00000296484.6:c.981+1G>A	ENSP00000296484.2:n.981+1G>A
ENST00000394970.6:c.981+1G>A	ENSP00000378421.2:n.981+1G>A
ENST00000474012.1:c.867+1G>A	ENSP00000418968.1:n.867+1G>A
NM_001161580.1:c.981+1G>A	NP_001155052.1:n.981+1G>A
NM_001161581.1:c.867+1G>A	NP_001155053.1:n.867+1G>A
NM_015426.4:c.981+1G>A	NP_056241.3:n.981+1G>A
XM_011533560.1:c.882+2735G>A	XP_011531862.1:n.882+2735G>A
XM_011533561.1:c.882+2735G>A	XP_011531863.1:n.882+2735G>A
XM_011533563.1:c.*7+2735G>A	XP_011531865.1:n.*7+2735G>A
XM_011533564.1:c.*7+2735G>A	XP_011531866.1:n.*7+2735G>A
XR_940401.1:n.1021+1G>A
XR_940402.1:n.887+1G>A
XR_940403.1:n.887+1G>A
XM_011533564.3:c.*7+2735G>A	XP_011531866.1:n.*7+2735G>A
XM_017006104.1:c.867+1G>A	XP_016861593.1:n.867+1G>A
XR_001740088.1:n.1021+1G>A
NM_001161580.2:c.981+1G>A	NP_001155052.1:n.981+1G>A
NM_001161581.2:c.867+1G>A	NP_001155053.1:n.867+1G>A
NM_015426.5:c.981+1G>A MANE Select	NP_056241.3:n.981+1G>A