Canonical Allele Identifier: CA355011847

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690298G>T (hg19) ; chr3:g.150972511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972511G>T , CM000665.2:g.150972511G>T	GRCh38
NC_000003.11:g.150690298G>T , CM000665.1:g.150690298G>T	GRCh37
NC_000003.10:g.152172988G>T	NCBI36
NG_009168.1:g.5489C>A , LRG_700:g.5489C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.198C>A MANE Select	ENSP00000322280.1:p.Phe66Leu
ENST00000468836.2:c.174C>A	ENSP00000419892.2:p.Phe58Leu
ENST00000644099.1:c.39C>A	ENSP00000494762.1:p.Phe13Leu
ENST00000645441.1:c.40C>A
ENST00000327047.5:c.198C>A	ENSP00000322280.1:p.Phe66Leu
ENST00000328863.8:c.198C>A	ENSP00000329158.4:p.Phe66Leu
ENST00000468836.1:c.-203C>A	ENSP00000419892.1:n.-203C>A
ENST00000472224.1:n.204C>A
NM_001195794.1:c.198C>A , LRG_700t1:c.198C>A	NP_001182723.1:p.Phe66Leu
NM_001256819.1:c.198C>A	NP_001243748.1:p.Phe66Leu
NM_174878.2:c.198C>A	NP_777367.1:p.Phe66Leu
NR_046380.2:n.489C>A
XR_924167.1:n.510C>A
NM_001256819.2:c.198C>A	NP_001243748.1:p.Phe66Leu
NM_174878.3:c.198C>A MANE Select	NP_777367.1:p.Phe66Leu
NR_046380.3:n.217C>A