Canonical Allele Identifier: CA355011961

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690350G>T (hg19) ; chr3:g.150972563G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972563G>T , CM000665.2:g.150972563G>T	GRCh38
NC_000003.11:g.150690350G>T , CM000665.1:g.150690350G>T	GRCh37
NC_000003.10:g.152173040G>T	NCBI36
NG_009168.1:g.5437C>A , LRG_700:g.5437C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.146C>A MANE Select	ENSP00000322280.1:p.Ala49Asp
ENST00000468836.2:c.122C>A	ENSP00000419892.2:p.Ala41Asp
ENST00000327047.5:c.146C>A	ENSP00000322280.1:p.Ala49Asp
ENST00000328863.8:c.146C>A	ENSP00000329158.4:p.Ala49Asp
ENST00000468836.1:c.-255C>A	ENSP00000419892.1:n.-255C>A
ENST00000472224.1:n.152C>A
NM_001195794.1:c.146C>A , LRG_700t1:c.146C>A	NP_001182723.1:p.Ala49Asp
NM_001256819.1:c.146C>A	NP_001243748.1:p.Ala49Asp
NM_174878.2:c.146C>A	NP_777367.1:p.Ala49Asp
NR_046380.2:n.437C>A
XR_924167.1:n.458C>A
NM_001256819.2:c.146C>A	NP_001243748.1:p.Ala49Asp
NM_174878.3:c.146C>A MANE Select	NP_777367.1:p.Ala49Asp
NR_046380.3:n.165C>A