Canonical Allele Identifier: CA1410888471

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941596A= , CM000665.2:g.150941596A=	GRCh38
NC_000003.11:g.150659383A= , CM000665.1:g.150659383A=	GRCh37
NC_000003.10:g.152142073A=	NCBI36
NG_009168.1:g.36404T= , LRG_700:g.36404T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.419T= MANE Select	ENSP00000322280.1:p.Leu140=
ENST00000468836.2:c.567T=	ENSP00000419892.2:n.567T=
ENST00000644099.1:c.411T=	ENSP00000494762.1:n.411T=
ENST00000295911.6:c.191T=	ENSP00000295911.2:p.Leu64=
ENST00000327047.5:c.419T=	ENSP00000322280.1:p.Leu140=
ENST00000328863.8:c.419T=	ENSP00000329158.4:p.Leu140=
ENST00000468836.1:c.191T=	ENSP00000419892.1:p.Leu64=
ENST00000472224.1:n.425T=
ENST00000485607.1:c.83T=	ENSP00000419244.1:p.Leu28=
ENST00000562308.5:c.90T=
ENST00000565169.1:c.148T=
ENST00000569170.5:c.148T=
NM_001195794.1:c.419T= , LRG_700t1:c.419T=	NP_001182723.1:p.Leu140=
NM_001256819.1:c.*33T=	NP_001243748.1:n.*33T=
NM_052995.2:c.191T= , LRG_700t2:c.191T=	NP_443721.1:p.Leu64=
NM_174878.2:c.419T=	NP_777367.1:p.Leu140=
NR_046380.2:n.861T=
XR_924167.1:n.731T=
NM_001256819.2:c.*33T=	NP_001243748.1:n.*33T=
NM_174878.3:c.419T= MANE Select	NP_777367.1:p.Leu140=
NR_046380.3:n.589T=