Canonical Allele Identifier: CA354953035

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645853C>G (hg19) ; chr3:g.150928066C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928066C>G , CM000665.2:g.150928066C>G	GRCh38
NC_000003.11:g.150645853C>G , CM000665.1:g.150645853C>G	GRCh37
NC_000003.10:g.152128543C>G	NCBI36
NG_009168.1:g.49934G>C , LRG_700:g.49934G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.569G>C MANE Select	ENSP00000322280.1:p.Trp190Ser
ENST00000468836.2:c.717G>C	ENSP00000419892.2:n.717G>C
ENST00000295911.6:c.341G>C	ENSP00000295911.2:p.Trp114Ser
ENST00000327047.5:c.569G>C	ENSP00000322280.1:p.Trp190Ser
ENST00000328863.8:c.608G>C	ENSP00000329158.4:p.Trp203Ser
ENST00000468836.1:c.341G>C	ENSP00000419892.1:p.Trp114Ser
ENST00000562308.5:c.104+13516G>C
ENST00000565169.1:c.162+13516G>C
ENST00000569170.5:c.162+13516G>C
NM_001195794.1:c.608G>C , LRG_700t1:c.608G>C	NP_001182723.1:p.Trp203Ser
NM_001256819.1:c.*183G>C	NP_001243748.1:n.*183G>C
NM_052995.2:c.341G>C , LRG_700t2:c.341G>C	NP_443721.1:p.Trp114Ser
NM_174878.2:c.569G>C	NP_777367.1:p.Trp190Ser
NR_046380.2:n.1050G>C
XR_924167.1:n.881G>C
NM_001256819.2:c.*183G>C	NP_001243748.1:n.*183G>C
NM_174878.3:c.569G>C MANE Select	NP_777367.1:p.Trp190Ser
NR_046380.3:n.778G>C