Canonical Allele Identifier: CA355011763

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690258G>T (hg19) ; chr3:g.150972471G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972471G>T , CM000665.2:g.150972471G>T	GRCh38
NC_000003.11:g.150690258G>T , CM000665.1:g.150690258G>T	GRCh37
NC_000003.10:g.152172948G>T	NCBI36
NG_009168.1:g.5529C>A , LRG_700:g.5529C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.238C>A MANE Select	ENSP00000322280.1:p.Pro80Thr
ENST00000468836.2:c.214C>A	ENSP00000419892.2:p.Pro72Thr
ENST00000644099.1:c.79C>A	ENSP00000494762.1:p.Pro27Thr
ENST00000645441.1:c.80C>A
ENST00000327047.5:c.238C>A	ENSP00000322280.1:p.Pro80Thr
ENST00000328863.8:c.238C>A	ENSP00000329158.4:p.Pro80Thr
ENST00000468836.1:c.-163C>A	ENSP00000419892.1:n.-163C>A
ENST00000472224.1:n.244C>A
NM_001195794.1:c.238C>A , LRG_700t1:c.238C>A	NP_001182723.1:p.Pro80Thr
NM_001256819.1:c.238C>A	NP_001243748.1:p.Pro80Thr
NM_174878.2:c.238C>A	NP_777367.1:p.Pro80Thr
NR_046380.2:n.529C>A
XR_924167.1:n.550C>A
NM_001256819.2:c.238C>A	NP_001243748.1:p.Pro80Thr
NM_174878.3:c.238C>A MANE Select	NP_777367.1:p.Pro80Thr
NR_046380.3:n.257C>A