Canonical Allele Identifier: CA355011782

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690268C>A (hg19) ; chr3:g.150972481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972481C>A , CM000665.2:g.150972481C>A	GRCh38
NC_000003.11:g.150690268C>A , CM000665.1:g.150690268C>A	GRCh37
NC_000003.10:g.152172958C>A	NCBI36
NG_009168.1:g.5519G>T , LRG_700:g.5519G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.228G>T MANE Select	ENSP00000322280.1:p.Leu76Phe
ENST00000468836.2:c.204G>T	ENSP00000419892.2:p.Leu68Phe
ENST00000644099.1:c.69G>T	ENSP00000494762.1:p.Leu23Phe
ENST00000645441.1:c.70G>T
ENST00000327047.5:c.228G>T	ENSP00000322280.1:p.Leu76Phe
ENST00000328863.8:c.228G>T	ENSP00000329158.4:p.Leu76Phe
ENST00000468836.1:c.-173G>T	ENSP00000419892.1:n.-173G>T
ENST00000472224.1:n.234G>T
NM_001195794.1:c.228G>T , LRG_700t1:c.228G>T	NP_001182723.1:p.Leu76Phe
NM_001256819.1:c.228G>T	NP_001243748.1:p.Leu76Phe
NM_174878.2:c.228G>T	NP_777367.1:p.Leu76Phe
NR_046380.2:n.519G>T
XR_924167.1:n.540G>T
NM_001256819.2:c.228G>T	NP_001243748.1:p.Leu76Phe
NM_174878.3:c.228G>T MANE Select	NP_777367.1:p.Leu76Phe
NR_046380.3:n.247G>T