Canonical Allele Identifier: CA355011876

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150972524-T-A
• MyVariant Identifiers: chr3:g.150690311T>A (hg19) ; chr3:g.150972524T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972524T>A , CM000665.2:g.150972524T>A	GRCh38
NC_000003.11:g.150690311T>A , CM000665.1:g.150690311T>A	GRCh37
NC_000003.10:g.152173001T>A	NCBI36
NG_009168.1:g.5476A>T , LRG_700:g.5476A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.185A>T MANE Select	ENSP00000322280.1:p.Gln62Leu
ENST00000468836.2:c.161A>T	ENSP00000419892.2:p.Gln54Leu
ENST00000644099.1:c.26A>T	ENSP00000494762.1:p.Gln9Leu
ENST00000645441.1:c.27A>T
ENST00000327047.5:c.185A>T	ENSP00000322280.1:p.Gln62Leu
ENST00000328863.8:c.185A>T	ENSP00000329158.4:p.Gln62Leu
ENST00000468836.1:c.-216A>T	ENSP00000419892.1:n.-216A>T
ENST00000472224.1:n.191A>T
NM_001195794.1:c.185A>T , LRG_700t1:c.185A>T	NP_001182723.1:p.Gln62Leu
NM_001256819.1:c.185A>T	NP_001243748.1:p.Gln62Leu
NM_174878.2:c.185A>T	NP_777367.1:p.Gln62Leu
NR_046380.2:n.476A>T
XR_924167.1:n.497A>T
NM_001256819.2:c.185A>T	NP_001243748.1:p.Gln62Leu
NM_174878.3:c.185A>T MANE Select	NP_777367.1:p.Gln62Leu
NR_046380.3:n.204A>T