Canonical Allele Identifier: CA129342

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 30575
• ClinVar RCV Id: RCV000023538 ; RCV001073290 ; RCV001384938
• dbSNP Id: rs374390376
• MyVariant Identifiers: chr3:g.150690404G>A (hg19) ; chr3:g.150972617G>A (hg38)
• PubMed: PMID:21310491

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972617G>A , CM000665.2:g.150972617G>A	GRCh38
NC_000003.11:g.150690404G>A , CM000665.1:g.150690404G>A	GRCh37
NC_000003.10:g.152173094G>A	NCBI36
NG_009168.1:g.5383C>T , LRG_700:g.5383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.92C>T MANE Select	ENSP00000322280.1:p.Pro31Leu
ENST00000468836.2:c.68C>T	ENSP00000419892.2:p.Pro23Leu
ENST00000327047.5:c.92C>T	ENSP00000322280.1:p.Pro31Leu
ENST00000328863.8:c.92C>T	ENSP00000329158.4:p.Pro31Leu
ENST00000468836.1:c.-309C>T	ENSP00000419892.1:n.-309C>T
ENST00000472224.1:n.98C>T
NM_001195794.1:c.92C>T , LRG_700t1:c.92C>T	NP_001182723.1:p.Pro31Leu
NM_001256819.1:c.92C>T	NP_001243748.1:p.Pro31Leu
NM_174878.2:c.92C>T	NP_777367.1:p.Pro31Leu
NR_046380.2:n.383C>T
XR_924167.1:n.404C>T
NM_001256819.2:c.92C>T	NP_001243748.1:p.Pro31Leu
NM_174878.3:c.92C>T MANE Select	NP_777367.1:p.Pro31Leu
NR_046380.3:n.111C>T