Canonical Allele Identifier: CA355011755

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690254A>G (hg19) ; chr3:g.150972467A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972467A>G , CM000665.2:g.150972467A>G	GRCh38
NC_000003.11:g.150690254A>G , CM000665.1:g.150690254A>G	GRCh37
NC_000003.10:g.152172944A>G	NCBI36
NG_009168.1:g.5533T>C , LRG_700:g.5533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.242T>C MANE Select	ENSP00000322280.1:p.Phe81Ser
ENST00000468836.2:c.218T>C	ENSP00000419892.2:p.Phe73Ser
ENST00000644099.1:c.83T>C	ENSP00000494762.1:p.Phe28Ser
ENST00000645441.1:c.84T>C
ENST00000327047.5:c.242T>C	ENSP00000322280.1:p.Phe81Ser
ENST00000328863.8:c.242T>C	ENSP00000329158.4:p.Phe81Ser
ENST00000468836.1:c.-159T>C	ENSP00000419892.1:n.-159T>C
ENST00000472224.1:n.248T>C
NM_001195794.1:c.242T>C , LRG_700t1:c.242T>C	NP_001182723.1:p.Phe81Ser
NM_001256819.1:c.242T>C	NP_001243748.1:p.Phe81Ser
NM_174878.2:c.242T>C	NP_777367.1:p.Phe81Ser
NR_046380.2:n.533T>C
XR_924167.1:n.554T>C
NM_001256819.2:c.242T>C	NP_001243748.1:p.Phe81Ser
NM_174878.3:c.242T>C MANE Select	NP_777367.1:p.Phe81Ser
NR_046380.3:n.261T>C