Canonical Allele Identifier: CA355011885
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972528T>A , CM000665.2:g.150972528T>A GRCh38
NC_000003.11:g.150690315T>A , CM000665.1:g.150690315T>A GRCh37
NC_000003.10:g.152173005T>A NCBI36
NG_009168.1:g.5472A>T , LRG_700:g.5472A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.181A>T MANE Select ENSP00000322280.1:p.Met61Leu
ENST00000468836.2:c.157A>T ENSP00000419892.2:p.Met53Leu
ENST00000644099.1:c.22A>T ENSP00000494762.1:p.Met8Leu
ENST00000645441.1:c.23A>T
ENST00000327047.5:c.181A>T ENSP00000322280.1:p.Met61Leu
ENST00000328863.8:c.181A>T ENSP00000329158.4:p.Met61Leu
ENST00000468836.1:c.-220A>T ENSP00000419892.1:n.-220A>T
ENST00000472224.1:n.187A>T
NM_001195794.1:c.181A>T , LRG_700t1:c.181A>T NP_001182723.1:p.Met61Leu
NM_001256819.1:c.181A>T NP_001243748.1:p.Met61Leu
NM_174878.2:c.181A>T NP_777367.1:p.Met61Leu
NR_046380.2:n.472A>T
XR_924167.1:n.493A>T
NM_001256819.2:c.181A>T NP_001243748.1:p.Met61Leu
NM_174878.3:c.181A>T MANE Select NP_777367.1:p.Met61Leu
NR_046380.3:n.200A>T