Canonical Allele Identifier: CA436403121

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1127999
• ClinVar RCV Id: RCV001460620
• dbSNP Id: rs1715600109
• MyVariant Identifiers: chr3:g.150690385A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972598A>G , CM000665.2:g.150972598A>G	GRCh38
NC_000003.11:g.150690385A>G , CM000665.1:g.150690385A>G	GRCh37
NC_000003.10:g.152173075A>G	NCBI36
NG_009168.1:g.5402T>C , LRG_700:g.5402T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.111T>C MANE Select	ENSP00000322280.1:p.Thr37=
ENST00000468836.2:c.87T>C	ENSP00000419892.2:p.Thr29=
ENST00000327047.5:c.111T>C	ENSP00000322280.1:p.Thr37=
ENST00000328863.8:c.111T>C	ENSP00000329158.4:p.Thr37=
ENST00000468836.1:c.-290T>C	ENSP00000419892.1:n.-290T>C
ENST00000472224.1:n.117T>C
NM_001195794.1:c.111T>C , LRG_700t1:c.111T>C	NP_001182723.1:p.Thr37=
NM_001256819.1:c.111T>C	NP_001243748.1:p.Thr37=
NM_174878.2:c.111T>C	NP_777367.1:p.Thr37=
NR_046380.2:n.402T>C
XR_924167.1:n.423T>C
NM_001256819.2:c.111T>C	NP_001243748.1:p.Thr37=
NM_174878.3:c.111T>C MANE Select	NP_777367.1:p.Thr37=
NR_046380.3:n.130T>C