Canonical Allele Identifier: CA355012189

Gene: CLRN1

Linked Data

• dbSNP Id: rs1271175604
• gnomAD v2: 3-150690461-A-G
• MyVariant Identifiers: chr3:g.150690461A>G (hg19) ; chr3:g.150972674A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972674A>G , CM000665.2:g.150972674A>G	GRCh38
NC_000003.11:g.150690461A>G , CM000665.1:g.150690461A>G	GRCh37
NC_000003.10:g.152173151A>G	NCBI36
NG_009168.1:g.5326T>C , LRG_700:g.5326T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.35T>C MANE Select	ENSP00000322280.1:p.Met12Thr
ENST00000468836.2:c.11T>C	ENSP00000419892.2:p.Met4Thr
ENST00000327047.5:c.35T>C	ENSP00000322280.1:p.Met12Thr
ENST00000328863.8:c.35T>C	ENSP00000329158.4:p.Met12Thr
ENST00000468836.1:c.-366T>C	ENSP00000419892.1:n.-366T>C
ENST00000472224.1:n.41T>C
NM_001195794.1:c.35T>C , LRG_700t1:c.35T>C	NP_001182723.1:p.Met12Thr
NM_001256819.1:c.35T>C	NP_001243748.1:p.Met12Thr
NM_174878.2:c.35T>C	NP_777367.1:p.Met12Thr
NR_046380.2:n.326T>C
XR_924167.1:n.347T>C
NM_001256819.2:c.35T>C	NP_001243748.1:p.Met12Thr
NM_174878.3:c.35T>C MANE Select	NP_777367.1:p.Met12Thr
NR_046380.3:n.54T>C