Canonical Allele Identifier: CA354955959

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659500A>C (hg19) ; chr3:g.150941713A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941713A>C , CM000665.2:g.150941713A>C	GRCh38
NC_000003.11:g.150659500A>C , CM000665.1:g.150659500A>C	GRCh37
NC_000003.10:g.152142190A>C	NCBI36
NG_009168.1:g.36287T>G , LRG_700:g.36287T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.302T>G MANE Select	ENSP00000322280.1:p.Val101Gly
ENST00000468836.2:c.450T>G	ENSP00000419892.2:p.Cys150Trp
ENST00000644099.1:c.294T>G	ENSP00000494762.1:n.294T>G
ENST00000295911.6:c.74T>G	ENSP00000295911.2:p.Val25Gly
ENST00000327047.5:c.302T>G	ENSP00000322280.1:p.Val101Gly
ENST00000328863.8:c.302T>G	ENSP00000329158.4:p.Val101Gly
ENST00000468836.1:c.74T>G	ENSP00000419892.1:p.Val25Gly
ENST00000472224.1:n.308T>G
ENST00000485607.1:c.-35T>G	ENSP00000419244.1:n.-35T>G
ENST00000565169.1:c.31T>G
ENST00000569170.5:c.31T>G
NM_001195794.1:c.302T>G , LRG_700t1:c.302T>G	NP_001182723.1:p.Val101Gly
NM_001256819.1:c.474T>G	NP_001243748.1:p.Cys158Trp
NM_052995.2:c.74T>G , LRG_700t2:c.74T>G	NP_443721.1:p.Val25Gly
NM_174878.2:c.302T>G	NP_777367.1:p.Val101Gly
NR_046380.2:n.744T>G
XR_924167.1:n.614T>G
NM_001256819.2:c.474T>G	NP_001243748.1:p.Cys158Trp
NM_174878.3:c.302T>G MANE Select	NP_777367.1:p.Val101Gly
NR_046380.3:n.472T>G