Canonical Allele Identifier: CA355011984

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690363G>C (hg19) ; chr3:g.150972576G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972576G>C , CM000665.2:g.150972576G>C	GRCh38
NC_000003.11:g.150690363G>C , CM000665.1:g.150690363G>C	GRCh37
NC_000003.10:g.152173053G>C	NCBI36
NG_009168.1:g.5424C>G , LRG_700:g.5424C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.133C>G MANE Select	ENSP00000322280.1:p.Leu45Val
ENST00000468836.2:c.109C>G	ENSP00000419892.2:p.Leu37Val
ENST00000327047.5:c.133C>G	ENSP00000322280.1:p.Leu45Val
ENST00000328863.8:c.133C>G	ENSP00000329158.4:p.Leu45Val
ENST00000468836.1:c.-268C>G	ENSP00000419892.1:n.-268C>G
ENST00000472224.1:n.139C>G
NM_001195794.1:c.133C>G , LRG_700t1:c.133C>G	NP_001182723.1:p.Leu45Val
NM_001256819.1:c.133C>G	NP_001243748.1:p.Leu45Val
NM_174878.2:c.133C>G	NP_777367.1:p.Leu45Val
NR_046380.2:n.424C>G
XR_924167.1:n.445C>G
NM_001256819.2:c.133C>G	NP_001243748.1:p.Leu45Val
NM_174878.3:c.133C>G MANE Select	NP_777367.1:p.Leu45Val
NR_046380.3:n.152C>G