Canonical Allele Identifier: CA354955606

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150941665-G-T
• MyVariant Identifiers: chr3:g.150659452G>T (hg19) ; chr3:g.150941665G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941665G>T , CM000665.2:g.150941665G>T	GRCh38
NC_000003.11:g.150659452G>T , CM000665.1:g.150659452G>T	GRCh37
NC_000003.10:g.152142142G>T	NCBI36
NG_009168.1:g.36335C>A , LRG_700:g.36335C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.350C>A MANE Select	ENSP00000322280.1:p.Ala117Asp
ENST00000468836.2:c.498C>A	ENSP00000419892.2:p.Ser166Arg
ENST00000644099.1:c.342C>A	ENSP00000494762.1:n.342C>A
ENST00000295911.6:c.122C>A	ENSP00000295911.2:p.Ala41Asp
ENST00000327047.5:c.350C>A	ENSP00000322280.1:p.Ala117Asp
ENST00000328863.8:c.350C>A	ENSP00000329158.4:p.Ala117Asp
ENST00000468836.1:c.122C>A	ENSP00000419892.1:p.Ala41Asp
ENST00000472224.1:n.356C>A
ENST00000485607.1:c.14C>A	ENSP00000419244.1:p.Ala5Asp
ENST00000562308.5:c.21C>A
ENST00000565169.1:c.79C>A
ENST00000569170.5:c.79C>A
NM_001195794.1:c.350C>A , LRG_700t1:c.350C>A	NP_001182723.1:p.Ala117Asp
NM_001256819.1:c.522C>A	NP_001243748.1:p.Ser174Arg
NM_052995.2:c.122C>A , LRG_700t2:c.122C>A	NP_443721.1:p.Ala41Asp
NM_174878.2:c.350C>A	NP_777367.1:p.Ala117Asp
NR_046380.2:n.792C>A
XR_924167.1:n.662C>A
NM_001256819.2:c.522C>A	NP_001243748.1:p.Ser174Arg
NM_174878.3:c.350C>A MANE Select	NP_777367.1:p.Ala117Asp
NR_046380.3:n.520C>A