Canonical Allele Identifier: CA436403084

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690361C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972574C>A , CM000665.2:g.150972574C>A	GRCh38
NC_000003.11:g.150690361C>A , CM000665.1:g.150690361C>A	GRCh37
NC_000003.10:g.152173051C>A	NCBI36
NG_009168.1:g.5426G>T , LRG_700:g.5426G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.135G>T MANE Select	ENSP00000322280.1:p.Leu45=
ENST00000468836.2:c.111G>T	ENSP00000419892.2:p.Leu37=
ENST00000327047.5:c.135G>T	ENSP00000322280.1:p.Leu45=
ENST00000328863.8:c.135G>T	ENSP00000329158.4:p.Leu45=
ENST00000468836.1:c.-266G>T	ENSP00000419892.1:n.-266G>T
ENST00000472224.1:n.141G>T
NM_001195794.1:c.135G>T , LRG_700t1:c.135G>T	NP_001182723.1:p.Leu45=
NM_001256819.1:c.135G>T	NP_001243748.1:p.Leu45=
NM_174878.2:c.135G>T	NP_777367.1:p.Leu45=
NR_046380.2:n.426G>T
XR_924167.1:n.447G>T
NM_001256819.2:c.135G>T	NP_001243748.1:p.Leu45=
NM_174878.3:c.135G>T MANE Select	NP_777367.1:p.Leu45=
NR_046380.3:n.154G>T