Canonical Allele Identifier: CA355011863

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690306C>A (hg19) ; chr3:g.150972519C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972519C>A , CM000665.2:g.150972519C>A	GRCh38
NC_000003.11:g.150690306C>A , CM000665.1:g.150690306C>A	GRCh37
NC_000003.10:g.152172996C>A	NCBI36
NG_009168.1:g.5481G>T , LRG_700:g.5481G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.190G>T MANE Select	ENSP00000322280.1:p.Gly64Trp
ENST00000468836.2:c.166G>T	ENSP00000419892.2:p.Gly56Trp
ENST00000644099.1:c.31G>T	ENSP00000494762.1:p.Gly11Trp
ENST00000645441.1:c.32G>T
ENST00000327047.5:c.190G>T	ENSP00000322280.1:p.Gly64Trp
ENST00000328863.8:c.190G>T	ENSP00000329158.4:p.Gly64Trp
ENST00000468836.1:c.-211G>T	ENSP00000419892.1:n.-211G>T
ENST00000472224.1:n.196G>T
NM_001195794.1:c.190G>T , LRG_700t1:c.190G>T	NP_001182723.1:p.Gly64Trp
NM_001256819.1:c.190G>T	NP_001243748.1:p.Gly64Trp
NM_174878.2:c.190G>T	NP_777367.1:p.Gly64Trp
NR_046380.2:n.481G>T
XR_924167.1:n.502G>T
NM_001256819.2:c.190G>T	NP_001243748.1:p.Gly64Trp
NM_174878.3:c.190G>T MANE Select	NP_777367.1:p.Gly64Trp
NR_046380.3:n.209G>T