Canonical Allele Identifier: CA354953179

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645917C>A (hg19) ; chr3:g.150928130C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928130C>A , CM000665.2:g.150928130C>A	GRCh38
NC_000003.11:g.150645917C>A , CM000665.1:g.150645917C>A	GRCh37
NC_000003.10:g.152128607C>A	NCBI36
NG_009168.1:g.49870G>T , LRG_700:g.49870G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.505G>T MANE Select	ENSP00000322280.1:p.Ala169Ser
ENST00000468836.2:c.653G>T	ENSP00000419892.2:n.653G>T
ENST00000295911.6:c.277G>T	ENSP00000295911.2:p.Ala93Ser
ENST00000327047.5:c.505G>T	ENSP00000322280.1:p.Ala169Ser
ENST00000328863.8:c.544G>T	ENSP00000329158.4:p.Ala182Ser
ENST00000468836.1:c.277G>T	ENSP00000419892.1:p.Ala93Ser
ENST00000562308.5:c.104+13452G>T
ENST00000565169.1:c.162+13452G>T
ENST00000569170.5:c.162+13452G>T
NM_001195794.1:c.544G>T , LRG_700t1:c.544G>T	NP_001182723.1:p.Ala182Ser
NM_001256819.1:c.*119G>T	NP_001243748.1:n.*119G>T
NM_052995.2:c.277G>T , LRG_700t2:c.277G>T	NP_443721.1:p.Ala93Ser
NM_174878.2:c.505G>T	NP_777367.1:p.Ala169Ser
NR_046380.2:n.986G>T
XR_924167.1:n.817G>T
NM_001256819.2:c.*119G>T	NP_001243748.1:n.*119G>T
NM_174878.3:c.505G>T MANE Select	NP_777367.1:p.Ala169Ser
NR_046380.3:n.714G>T