Canonical Allele Identifier: CA355011915

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690327A>G (hg19) ; chr3:g.150972540A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972540A>G , CM000665.2:g.150972540A>G	GRCh38
NC_000003.11:g.150690327A>G , CM000665.1:g.150690327A>G	GRCh37
NC_000003.10:g.152173017A>G	NCBI36
NG_009168.1:g.5460T>C , LRG_700:g.5460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.169T>C MANE Select	ENSP00000322280.1:p.Phe57Leu
ENST00000468836.2:c.145T>C	ENSP00000419892.2:p.Phe49Leu
ENST00000644099.1:c.10T>C	ENSP00000494762.1:p.Phe4Leu
ENST00000645441.1:c.11T>C
ENST00000327047.5:c.169T>C	ENSP00000322280.1:p.Phe57Leu
ENST00000328863.8:c.169T>C	ENSP00000329158.4:p.Phe57Leu
ENST00000468836.1:c.-232T>C	ENSP00000419892.1:n.-232T>C
ENST00000472224.1:n.175T>C
NM_001195794.1:c.169T>C , LRG_700t1:c.169T>C	NP_001182723.1:p.Phe57Leu
NM_001256819.1:c.169T>C	NP_001243748.1:p.Phe57Leu
NM_174878.2:c.169T>C	NP_777367.1:p.Phe57Leu
NR_046380.2:n.460T>C
XR_924167.1:n.481T>C
NM_001256819.2:c.169T>C	NP_001243748.1:p.Phe57Leu
NM_174878.3:c.169T>C MANE Select	NP_777367.1:p.Phe57Leu
NR_046380.3:n.188T>C