Canonical Allele Identifier: CA354956143

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941747G>C , CM000665.2:g.150941747G>C	GRCh38
NC_000003.11:g.150659534G>C , CM000665.1:g.150659534G>C	GRCh37
NC_000003.10:g.152142224G>C	NCBI36
NG_009168.1:g.36253C>G , LRG_700:g.36253C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.268C>G MANE Select	NP_777367.1:p.Leu90Val
ENST00000327047.6:c.268C>G MANE Select	ENSP00000322280.1:p.Leu90Val
NM_001195794.1:c.268C>G , LRG_700t1:c.268C>G	NP_001182723.1:p.Leu90Val
NM_001256819.1:c.440C>G	NP_001243748.1:p.Ala147Gly
NM_001256819.2:c.440C>G	NP_001243748.1:p.Ala147Gly
NM_052995.2:c.40C>G , LRG_700t2:c.40C>G	NP_443721.1:p.Leu14Val
NM_174878.2:c.268C>G	NP_777367.1:p.Leu90Val
NR_046380.2:n.710C>G
NR_046380.3:n.438C>G
ENST00000295911.6:c.40C>G	ENSP00000295911.2:p.Leu14Val
ENST00000327047.5:c.268C>G	ENSP00000322280.1:p.Leu90Val
ENST00000328863.8:c.268C>G	ENSP00000329158.4:p.Leu90Val
ENST00000468836.1:c.40C>G	ENSP00000419892.1:p.Leu14Val
ENST00000468836.2:c.416C>G	ENSP00000419892.2:p.Ala139Gly
ENST00000472224.1:n.274C>G
ENST00000485607.1:c.-69C>G	ENSP00000419244.1:n.-69C>G
ENST00000644099.1:c.260C>G	ENSP00000494762.1:n.260C>G
XR_924167.1:n.580C>G