Canonical Allele Identifier: CA355011869
Community Standard Title: NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972521T>G , CM000665.2:g.150972521T>G GRCh38
NC_000003.11:g.150690308T>G , CM000665.1:g.150690308T>G GRCh37
NC_000003.10:g.152172998T>G NCBI36
NG_009168.1:g.5479A>C , LRG_700:g.5479A>C

Transcript Alleles

HGVS Amino-acid Change
NM_174878.3:c.188A>C MANE Select NP_777367.1:p.Tyr63Ser
ENST00000327047.6:c.188A>C MANE Select ENSP00000322280.1:p.Tyr63Ser
NM_001195794.1:c.188A>C , LRG_700t1:c.188A>C NP_001182723.1:p.Tyr63Ser
NM_001256819.1:c.188A>C NP_001243748.1:p.Tyr63Ser
NM_001256819.2:c.188A>C NP_001243748.1:p.Tyr63Ser
NM_174878.2:c.188A>C NP_777367.1:p.Tyr63Ser
NR_046380.2:n.479A>C
NR_046380.3:n.207A>C
ENST00000327047.5:c.188A>C ENSP00000322280.1:p.Tyr63Ser
ENST00000328863.8:c.188A>C ENSP00000329158.4:p.Tyr63Ser
ENST00000468836.1:c.-213A>C ENSP00000419892.1:n.-213A>C
ENST00000468836.2:c.164A>C ENSP00000419892.2:p.Tyr55Ser
ENST00000472224.1:n.194A>C
ENST00000644099.1:c.29A>C ENSP00000494762.1:p.Tyr10Ser
ENST00000645441.1:c.30A>C
XR_924167.1:n.500A>C