Canonical Allele Identifier: CA355012178
Community Standard Title: NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter)
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972669C>A , CM000665.2:g.150972669C>A GRCh38
NC_000003.11:g.150690456C>A , CM000665.1:g.150690456C>A GRCh37
NC_000003.10:g.152173146C>A NCBI36
NG_009168.1:g.5331G>T , LRG_700:g.5331G>T

Transcript Alleles

HGVS Amino-acid Change
NM_174878.3:c.40G>T MANE Select NP_777367.1:p.Gly14Ter
ENST00000327047.6:c.40G>T MANE Select ENSP00000322280.1:p.Gly14Ter
NM_001195794.1:c.40G>T , LRG_700t1:c.40G>T NP_001182723.1:p.Gly14Ter
NM_001256819.1:c.40G>T NP_001243748.1:p.Gly14Ter
NM_001256819.2:c.40G>T NP_001243748.1:p.Gly14Ter
NM_174878.2:c.40G>T NP_777367.1:p.Gly14Ter
NR_046380.2:n.331G>T
NR_046380.3:n.59G>T
ENST00000327047.5:c.40G>T ENSP00000322280.1:p.Gly14Ter
ENST00000328863.8:c.40G>T ENSP00000329158.4:p.Gly14Ter
ENST00000468836.1:c.-361G>T ENSP00000419892.1:n.-361G>T
ENST00000468836.2:c.16G>T ENSP00000419892.2:p.Gly6Ter
ENST00000472224.1:n.46G>T
XR_924167.1:n.352G>T