Canonical Allele Identifier: CA436265537
Gene: CLRN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.150659538A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150941751A>G , CM000665.2:g.150941751A>G GRCh38
NC_000003.11:g.150659538A>G , CM000665.1:g.150659538A>G GRCh37
NC_000003.10:g.152142228A>G NCBI36
NG_009168.1:g.36249T>C , LRG_700:g.36249T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.264T>C MANE Select ENSP00000322280.1:p.Asp88=
ENST00000468836.2:c.412T>C ENSP00000419892.2:p.Phe138Leu
ENST00000644099.1:c.256T>C ENSP00000494762.1:n.256T>C
ENST00000295911.6:c.36T>C ENSP00000295911.2:p.Asp12=
ENST00000327047.5:c.264T>C ENSP00000322280.1:p.Asp88=
ENST00000328863.8:c.264T>C ENSP00000329158.4:p.Asp88=
ENST00000468836.1:c.36T>C ENSP00000419892.1:p.Asp12=
ENST00000472224.1:n.270T>C
ENST00000485607.1:c.-73T>C ENSP00000419244.1:n.-73T>C
NM_001195794.1:c.264T>C , LRG_700t1:c.264T>C NP_001182723.1:p.Asp88=
NM_001256819.1:c.436T>C NP_001243748.1:p.Phe146Leu
NM_052995.2:c.36T>C , LRG_700t2:c.36T>C NP_443721.1:p.Asp12=
NM_174878.2:c.264T>C NP_777367.1:p.Asp88=
NR_046380.2:n.706T>C
XR_924167.1:n.576T>C
NM_001256819.2:c.436T>C NP_001243748.1:p.Phe146Leu
NM_174878.3:c.264T>C MANE Select NP_777367.1:p.Asp88=
NR_046380.3:n.434T>C