Canonical Allele Identifier: CA354956115

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659530T>A (hg19) ; chr3:g.150941743T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941743T>A , CM000665.2:g.150941743T>A	GRCh38
NC_000003.11:g.150659530T>A , CM000665.1:g.150659530T>A	GRCh37
NC_000003.10:g.152142220T>A	NCBI36
NG_009168.1:g.36257A>T , LRG_700:g.36257A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.272A>T MANE Select	ENSP00000322280.1:p.Lys91Ile
ENST00000468836.2:c.420A>T	ENSP00000419892.2:p.Gln140His
ENST00000644099.1:c.264A>T	ENSP00000494762.1:n.264A>T
ENST00000295911.6:c.44A>T	ENSP00000295911.2:p.Lys15Ile
ENST00000327047.5:c.272A>T	ENSP00000322280.1:p.Lys91Ile
ENST00000328863.8:c.272A>T	ENSP00000329158.4:p.Lys91Ile
ENST00000468836.1:c.44A>T	ENSP00000419892.1:p.Lys15Ile
ENST00000472224.1:n.278A>T
ENST00000485607.1:c.-65A>T	ENSP00000419244.1:n.-65A>T
ENST00000565169.1:c.1A>T
ENST00000569170.5:c.1A>T
NM_001195794.1:c.272A>T , LRG_700t1:c.272A>T	NP_001182723.1:p.Lys91Ile
NM_001256819.1:c.444A>T	NP_001243748.1:p.Gln148His
NM_052995.2:c.44A>T , LRG_700t2:c.44A>T	NP_443721.1:p.Lys15Ile
NM_174878.2:c.272A>T	NP_777367.1:p.Lys91Ile
NR_046380.2:n.714A>T
XR_924167.1:n.584A>T
NM_001256819.2:c.444A>T	NP_001243748.1:p.Gln148His
NM_174878.3:c.272A>T MANE Select	NP_777367.1:p.Lys91Ile
NR_046380.3:n.442A>T