Canonical Allele Identifier: CA354956000

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659506A>G (hg19) ; chr3:g.150941719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941719A>G , CM000665.2:g.150941719A>G	GRCh38
NC_000003.11:g.150659506A>G , CM000665.1:g.150659506A>G	GRCh37
NC_000003.10:g.152142196A>G	NCBI36
NG_009168.1:g.36281T>C , LRG_700:g.36281T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.296T>C MANE Select	ENSP00000322280.1:p.Val99Ala
ENST00000468836.2:c.444T>C	ENSP00000419892.2:p.Arg148=
ENST00000644099.1:c.288T>C	ENSP00000494762.1:n.288T>C
ENST00000295911.6:c.68T>C	ENSP00000295911.2:p.Val23Ala
ENST00000327047.5:c.296T>C	ENSP00000322280.1:p.Val99Ala
ENST00000328863.8:c.296T>C	ENSP00000329158.4:p.Val99Ala
ENST00000468836.1:c.68T>C	ENSP00000419892.1:p.Val23Ala
ENST00000472224.1:n.302T>C
ENST00000485607.1:c.-41T>C	ENSP00000419244.1:n.-41T>C
ENST00000565169.1:c.25T>C
ENST00000569170.5:c.25T>C
NM_001195794.1:c.296T>C , LRG_700t1:c.296T>C	NP_001182723.1:p.Val99Ala
NM_001256819.1:c.468T>C	NP_001243748.1:p.Arg156=
NM_052995.2:c.68T>C , LRG_700t2:c.68T>C	NP_443721.1:p.Val23Ala
NM_174878.2:c.296T>C	NP_777367.1:p.Val99Ala
NR_046380.2:n.738T>C
XR_924167.1:n.608T>C
NM_001256819.2:c.468T>C	NP_001243748.1:p.Arg156=
NM_174878.3:c.296T>C MANE Select	NP_777367.1:p.Val99Ala
NR_046380.3:n.466T>C