Canonical Allele Identifier: CA436265204

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659373A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941586A>G , CM000665.2:g.150941586A>G	GRCh38
NC_000003.11:g.150659373A>G , CM000665.1:g.150659373A>G	GRCh37
NC_000003.10:g.152142063A>G	NCBI36
NG_009168.1:g.36414T>C , LRG_700:g.36414T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.429T>C MANE Select	ENSP00000322280.1:p.Ile143=
ENST00000468836.2:c.577T>C	ENSP00000419892.2:n.577T>C
ENST00000644099.1:c.421T>C	ENSP00000494762.1:n.421T>C
ENST00000295911.6:c.201T>C	ENSP00000295911.2:p.Ile67=
ENST00000327047.5:c.429T>C	ENSP00000322280.1:p.Ile143=
ENST00000328863.8:c.429T>C	ENSP00000329158.4:p.Ile143=
ENST00000468836.1:c.201T>C	ENSP00000419892.1:p.Ile67=
ENST00000472224.1:n.435T>C
ENST00000485607.1:c.93T>C	ENSP00000419244.1:p.Ile31=
ENST00000562308.5:c.100T>C
ENST00000565169.1:c.158T>C
ENST00000569170.5:c.158T>C
NM_001195794.1:c.429T>C , LRG_700t1:c.429T>C	NP_001182723.1:p.Ile143=
NM_001256819.1:c.*43T>C	NP_001243748.1:n.*43T>C
NM_052995.2:c.201T>C , LRG_700t2:c.201T>C	NP_443721.1:p.Ile67=
NM_174878.2:c.429T>C	NP_777367.1:p.Ile143=
NR_046380.2:n.871T>C
XR_924167.1:n.741T>C
NM_001256819.2:c.*43T>C	NP_001243748.1:n.*43T>C
NM_174878.3:c.429T>C MANE Select	NP_777367.1:p.Ile143=
NR_046380.3:n.599T>C