Canonical Allele Identifier: CA436265235
Gene: CLRN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.150659394C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150941607C>A , CM000665.2:g.150941607C>A GRCh38
NC_000003.11:g.150659394C>A , CM000665.1:g.150659394C>A GRCh37
NC_000003.10:g.152142084C>A NCBI36
NG_009168.1:g.36393G>T , LRG_700:g.36393G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.408G>T MANE Select ENSP00000322280.1:p.Gly136=
ENST00000468836.2:c.556G>T ENSP00000419892.2:n.556G>T
ENST00000644099.1:c.400G>T ENSP00000494762.1:n.400G>T
ENST00000295911.6:c.180G>T ENSP00000295911.2:p.Gly60=
ENST00000327047.5:c.408G>T ENSP00000322280.1:p.Gly136=
ENST00000328863.8:c.408G>T ENSP00000329158.4:p.Gly136=
ENST00000468836.1:c.180G>T ENSP00000419892.1:p.Gly60=
ENST00000472224.1:n.414G>T
ENST00000485607.1:c.72G>T ENSP00000419244.1:p.Gly24=
ENST00000562308.5:c.79G>T
ENST00000565169.1:c.137G>T
ENST00000569170.5:c.137G>T
NM_001195794.1:c.408G>T , LRG_700t1:c.408G>T NP_001182723.1:p.Gly136=
NM_001256819.1:c.*22G>T NP_001243748.1:n.*22G>T
NM_052995.2:c.180G>T , LRG_700t2:c.180G>T NP_443721.1:p.Gly60=
NM_174878.2:c.408G>T NP_777367.1:p.Gly136=
NR_046380.2:n.850G>T
XR_924167.1:n.720G>T
NM_001256819.2:c.*22G>T NP_001243748.1:n.*22G>T
NM_174878.3:c.408G>T MANE Select NP_777367.1:p.Gly136=
NR_046380.3:n.578G>T