Canonical Allele Identifier: CA355011759

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690257G>A (hg19) ; chr3:g.150972470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972470G>A , CM000665.2:g.150972470G>A	GRCh38
NC_000003.11:g.150690257G>A , CM000665.1:g.150690257G>A	GRCh37
NC_000003.10:g.152172947G>A	NCBI36
NG_009168.1:g.5530C>T , LRG_700:g.5530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.239C>T MANE Select	ENSP00000322280.1:p.Pro80Leu
ENST00000468836.2:c.215C>T	ENSP00000419892.2:p.Pro72Leu
ENST00000644099.1:c.80C>T	ENSP00000494762.1:p.Pro27Leu
ENST00000645441.1:c.81C>T
ENST00000327047.5:c.239C>T	ENSP00000322280.1:p.Pro80Leu
ENST00000328863.8:c.239C>T	ENSP00000329158.4:p.Pro80Leu
ENST00000468836.1:c.-162C>T	ENSP00000419892.1:n.-162C>T
ENST00000472224.1:n.245C>T
NM_001195794.1:c.239C>T , LRG_700t1:c.239C>T	NP_001182723.1:p.Pro80Leu
NM_001256819.1:c.239C>T	NP_001243748.1:p.Pro80Leu
NM_174878.2:c.239C>T	NP_777367.1:p.Pro80Leu
NR_046380.2:n.530C>T
XR_924167.1:n.551C>T
NM_001256819.2:c.239C>T	NP_001243748.1:p.Pro80Leu
NM_174878.3:c.239C>T MANE Select	NP_777367.1:p.Pro80Leu
NR_046380.3:n.258C>T