Canonical Allele Identifier: CA354955965

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659501C>A (hg19) ; chr3:g.150941714C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941714C>A , CM000665.2:g.150941714C>A	GRCh38
NC_000003.11:g.150659501C>A , CM000665.1:g.150659501C>A	GRCh37
NC_000003.10:g.152142191C>A	NCBI36
NG_009168.1:g.36286G>T , LRG_700:g.36286G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.301G>T MANE Select	ENSP00000322280.1:p.Val101Phe
ENST00000468836.2:c.449G>T	ENSP00000419892.2:p.Cys150Phe
ENST00000644099.1:c.293G>T	ENSP00000494762.1:n.293G>T
ENST00000295911.6:c.73G>T	ENSP00000295911.2:p.Val25Phe
ENST00000327047.5:c.301G>T	ENSP00000322280.1:p.Val101Phe
ENST00000328863.8:c.301G>T	ENSP00000329158.4:p.Val101Phe
ENST00000468836.1:c.73G>T	ENSP00000419892.1:p.Val25Phe
ENST00000472224.1:n.307G>T
ENST00000485607.1:c.-36G>T	ENSP00000419244.1:n.-36G>T
ENST00000565169.1:c.30G>T
ENST00000569170.5:c.30G>T
NM_001195794.1:c.301G>T , LRG_700t1:c.301G>T	NP_001182723.1:p.Val101Phe
NM_001256819.1:c.473G>T	NP_001243748.1:p.Cys158Phe
NM_052995.2:c.73G>T , LRG_700t2:c.73G>T	NP_443721.1:p.Val25Phe
NM_174878.2:c.301G>T	NP_777367.1:p.Val101Phe
NR_046380.2:n.743G>T
XR_924167.1:n.613G>T
NM_001256819.2:c.473G>T	NP_001243748.1:p.Cys158Phe
NM_174878.3:c.301G>T MANE Select	NP_777367.1:p.Val101Phe
NR_046380.3:n.471G>T