Canonical Allele Identifier: CA354956061

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659522G>A (hg19) ; chr3:g.150941735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941735G>A , CM000665.2:g.150941735G>A	GRCh38
NC_000003.11:g.150659522G>A , CM000665.1:g.150659522G>A	GRCh37
NC_000003.10:g.152142212G>A	NCBI36
NG_009168.1:g.36265C>T , LRG_700:g.36265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.280C>T MANE Select	ENSP00000322280.1:p.Pro94Ser
ENST00000468836.2:c.428C>T	ENSP00000419892.2:p.Pro143Leu
ENST00000644099.1:c.272C>T	ENSP00000494762.1:n.272C>T
ENST00000295911.6:c.52C>T	ENSP00000295911.2:p.Pro18Ser
ENST00000327047.5:c.280C>T	ENSP00000322280.1:p.Pro94Ser
ENST00000328863.8:c.280C>T	ENSP00000329158.4:p.Pro94Ser
ENST00000468836.1:c.52C>T	ENSP00000419892.1:p.Pro18Ser
ENST00000472224.1:n.286C>T
ENST00000485607.1:c.-57C>T	ENSP00000419244.1:n.-57C>T
ENST00000565169.1:c.9C>T
ENST00000569170.5:c.9C>T
NM_001195794.1:c.280C>T , LRG_700t1:c.280C>T	NP_001182723.1:p.Pro94Ser
NM_001256819.1:c.452C>T	NP_001243748.1:p.Pro151Leu
NM_052995.2:c.52C>T , LRG_700t2:c.52C>T	NP_443721.1:p.Pro18Ser
NM_174878.2:c.280C>T	NP_777367.1:p.Pro94Ser
NR_046380.2:n.722C>T
XR_924167.1:n.592C>T
NM_001256819.2:c.452C>T	NP_001243748.1:p.Pro151Leu
NM_174878.3:c.280C>T MANE Select	NP_777367.1:p.Pro94Ser
NR_046380.3:n.450C>T