Canonical Allele Identifier: CA354955287

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659374A>G (hg19) ; chr3:g.150941587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941587A>G , CM000665.2:g.150941587A>G	GRCh38
NC_000003.11:g.150659374A>G , CM000665.1:g.150659374A>G	GRCh37
NC_000003.10:g.152142064A>G	NCBI36
NG_009168.1:g.36413T>C , LRG_700:g.36413T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.428T>C MANE Select	ENSP00000322280.1:p.Ile143Thr
ENST00000468836.2:c.576T>C	ENSP00000419892.2:n.576T>C
ENST00000644099.1:c.420T>C	ENSP00000494762.1:n.420T>C
ENST00000295911.6:c.200T>C	ENSP00000295911.2:p.Ile67Thr
ENST00000327047.5:c.428T>C	ENSP00000322280.1:p.Ile143Thr
ENST00000328863.8:c.428T>C	ENSP00000329158.4:p.Ile143Thr
ENST00000468836.1:c.200T>C	ENSP00000419892.1:p.Ile67Thr
ENST00000472224.1:n.434T>C
ENST00000485607.1:c.92T>C	ENSP00000419244.1:p.Ile31Thr
ENST00000562308.5:c.99T>C
ENST00000565169.1:c.157T>C
ENST00000569170.5:c.157T>C
NM_001195794.1:c.428T>C , LRG_700t1:c.428T>C	NP_001182723.1:p.Ile143Thr
NM_001256819.1:c.*42T>C	NP_001243748.1:n.*42T>C
NM_052995.2:c.200T>C , LRG_700t2:c.200T>C	NP_443721.1:p.Ile67Thr
NM_174878.2:c.428T>C	NP_777367.1:p.Ile143Thr
NR_046380.2:n.870T>C
XR_924167.1:n.740T>C
NM_001256819.2:c.*42T>C	NP_001243748.1:n.*42T>C
NM_174878.3:c.428T>C MANE Select	NP_777367.1:p.Ile143Thr
NR_046380.3:n.598T>C