Canonical Allele Identifier: CA436402930

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1147103
• ClinVar RCV Id: RCV001486510
• dbSNP Id: rs2107996760
• MyVariant Identifiers: chr3:g.150690271C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972484C>A , CM000665.2:g.150972484C>A	GRCh38
NC_000003.11:g.150690271C>A , CM000665.1:g.150690271C>A	GRCh37
NC_000003.10:g.152172961C>A	NCBI36
NG_009168.1:g.5516G>T , LRG_700:g.5516G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.225G>T MANE Select	ENSP00000322280.1:p.Gly75=
ENST00000468836.2:c.201G>T	ENSP00000419892.2:p.Gly67=
ENST00000644099.1:c.66G>T	ENSP00000494762.1:p.Gly22=
ENST00000645441.1:c.67G>T
ENST00000327047.5:c.225G>T	ENSP00000322280.1:p.Gly75=
ENST00000328863.8:c.225G>T	ENSP00000329158.4:p.Gly75=
ENST00000468836.1:c.-176G>T	ENSP00000419892.1:n.-176G>T
ENST00000472224.1:n.231G>T
NM_001195794.1:c.225G>T , LRG_700t1:c.225G>T	NP_001182723.1:p.Gly75=
NM_001256819.1:c.225G>T	NP_001243748.1:p.Gly75=
NM_174878.2:c.225G>T	NP_777367.1:p.Gly75=
NR_046380.2:n.516G>T
XR_924167.1:n.537G>T
NM_001256819.2:c.225G>T	NP_001243748.1:p.Gly75=
NM_174878.3:c.225G>T MANE Select	NP_777367.1:p.Gly75=
NR_046380.3:n.244G>T