Canonical Allele Identifier: CA354956056

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659521G>A (hg19) ; chr3:g.150941734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941734G>A , CM000665.2:g.150941734G>A	GRCh38
NC_000003.11:g.150659521G>A , CM000665.1:g.150659521G>A	GRCh37
NC_000003.10:g.152142211G>A	NCBI36
NG_009168.1:g.36266C>T , LRG_700:g.36266C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.281C>T MANE Select	ENSP00000322280.1:p.Pro94Leu
ENST00000468836.2:c.429C>T	ENSP00000419892.2:p.Pro143=
ENST00000644099.1:c.273C>T	ENSP00000494762.1:n.273C>T
ENST00000295911.6:c.53C>T	ENSP00000295911.2:p.Pro18Leu
ENST00000327047.5:c.281C>T	ENSP00000322280.1:p.Pro94Leu
ENST00000328863.8:c.281C>T	ENSP00000329158.4:p.Pro94Leu
ENST00000468836.1:c.53C>T	ENSP00000419892.1:p.Pro18Leu
ENST00000472224.1:n.287C>T
ENST00000485607.1:c.-56C>T	ENSP00000419244.1:n.-56C>T
ENST00000565169.1:c.10C>T
ENST00000569170.5:c.10C>T
NM_001195794.1:c.281C>T , LRG_700t1:c.281C>T	NP_001182723.1:p.Pro94Leu
NM_001256819.1:c.453C>T	NP_001243748.1:p.Pro151=
NM_052995.2:c.53C>T , LRG_700t2:c.53C>T	NP_443721.1:p.Pro18Leu
NM_174878.2:c.281C>T	NP_777367.1:p.Pro94Leu
NR_046380.2:n.723C>T
XR_924167.1:n.593C>T
NM_001256819.2:c.453C>T	NP_001243748.1:p.Pro151=
NM_174878.3:c.281C>T MANE Select	NP_777367.1:p.Pro94Leu
NR_046380.3:n.451C>T