Canonical Allele Identifier: CA436403116

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690379G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972592G>T , CM000665.2:g.150972592G>T	GRCh38
NC_000003.11:g.150690379G>T , CM000665.1:g.150690379G>T	GRCh37
NC_000003.10:g.152173069G>T	NCBI36
NG_009168.1:g.5408C>A , LRG_700:g.5408C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.117C>A MANE Select	ENSP00000322280.1:p.Leu39=
ENST00000468836.2:c.93C>A	ENSP00000419892.2:p.Leu31=
ENST00000327047.5:c.117C>A	ENSP00000322280.1:p.Leu39=
ENST00000328863.8:c.117C>A	ENSP00000329158.4:p.Leu39=
ENST00000468836.1:c.-284C>A	ENSP00000419892.1:n.-284C>A
ENST00000472224.1:n.123C>A
NM_001195794.1:c.117C>A , LRG_700t1:c.117C>A	NP_001182723.1:p.Leu39=
NM_001256819.1:c.117C>A	NP_001243748.1:p.Leu39=
NM_174878.2:c.117C>A	NP_777367.1:p.Leu39=
NR_046380.2:n.408C>A
XR_924167.1:n.429C>A
NM_001256819.2:c.117C>A	NP_001243748.1:p.Leu39=
NM_174878.3:c.117C>A MANE Select	NP_777367.1:p.Leu39=
NR_046380.3:n.136C>A