Canonical Allele Identifier: CA354955491

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659429C>G (hg19) ; chr3:g.150941642C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941642C>G , CM000665.2:g.150941642C>G	GRCh38
NC_000003.11:g.150659429C>G , CM000665.1:g.150659429C>G	GRCh37
NC_000003.10:g.152142119C>G	NCBI36
NG_009168.1:g.36358G>C , LRG_700:g.36358G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.373G>C MANE Select	ENSP00000322280.1:p.Gly125Arg
ENST00000468836.2:c.521G>C	ENSP00000419892.2:p.Trp174Ser
ENST00000644099.1:c.365G>C	ENSP00000494762.1:n.365G>C
ENST00000295911.6:c.145G>C	ENSP00000295911.2:p.Gly49Arg
ENST00000327047.5:c.373G>C	ENSP00000322280.1:p.Gly125Arg
ENST00000328863.8:c.373G>C	ENSP00000329158.4:p.Gly125Arg
ENST00000468836.1:c.145G>C	ENSP00000419892.1:p.Gly49Arg
ENST00000472224.1:n.379G>C
ENST00000485607.1:c.37G>C	ENSP00000419244.1:p.Gly13Arg
ENST00000562308.5:c.44G>C
ENST00000565169.1:c.102G>C
ENST00000569170.5:c.102G>C
NM_001195794.1:c.373G>C , LRG_700t1:c.373G>C	NP_001182723.1:p.Gly125Arg
NM_001256819.1:c.545G>C	NP_001243748.1:p.Trp182Ser
NM_052995.2:c.145G>C , LRG_700t2:c.145G>C	NP_443721.1:p.Gly49Arg
NM_174878.2:c.373G>C	NP_777367.1:p.Gly125Arg
NR_046380.2:n.815G>C
XR_924167.1:n.685G>C
NM_001256819.2:c.545G>C	NP_001243748.1:p.Trp182Ser
NM_174878.3:c.373G>C MANE Select	NP_777367.1:p.Gly125Arg
NR_046380.3:n.543G>C