Canonical Allele Identifier: CA355012025

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690384C>A (hg19) ; chr3:g.150972597C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972597C>A , CM000665.2:g.150972597C>A	GRCh38
NC_000003.11:g.150690384C>A , CM000665.1:g.150690384C>A	GRCh37
NC_000003.10:g.152173074C>A	NCBI36
NG_009168.1:g.5403G>T , LRG_700:g.5403G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.112G>T MANE Select	ENSP00000322280.1:p.Val38Phe
ENST00000468836.2:c.88G>T	ENSP00000419892.2:p.Val30Phe
ENST00000327047.5:c.112G>T	ENSP00000322280.1:p.Val38Phe
ENST00000328863.8:c.112G>T	ENSP00000329158.4:p.Val38Phe
ENST00000468836.1:c.-289G>T	ENSP00000419892.1:n.-289G>T
ENST00000472224.1:n.118G>T
NM_001195794.1:c.112G>T , LRG_700t1:c.112G>T	NP_001182723.1:p.Val38Phe
NM_001256819.1:c.112G>T	NP_001243748.1:p.Val38Phe
NM_174878.2:c.112G>T	NP_777367.1:p.Val38Phe
NR_046380.2:n.403G>T
XR_924167.1:n.424G>T
NM_001256819.2:c.112G>T	NP_001243748.1:p.Val38Phe
NM_174878.3:c.112G>T MANE Select	NP_777367.1:p.Val38Phe
NR_046380.3:n.131G>T