Canonical Allele Identifier: CA355012080

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690410C>A (hg19) ; chr3:g.150972623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972623C>A , CM000665.2:g.150972623C>A	GRCh38
NC_000003.11:g.150690410C>A , CM000665.1:g.150690410C>A	GRCh37
NC_000003.10:g.152173100C>A	NCBI36
NG_009168.1:g.5377G>T , LRG_700:g.5377G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.86G>T MANE Select	ENSP00000322280.1:p.Gly29Val
ENST00000468836.2:c.62G>T	ENSP00000419892.2:p.Gly21Val
ENST00000327047.5:c.86G>T	ENSP00000322280.1:p.Gly29Val
ENST00000328863.8:c.86G>T	ENSP00000329158.4:p.Gly29Val
ENST00000468836.1:c.-315G>T	ENSP00000419892.1:n.-315G>T
ENST00000472224.1:n.92G>T
NM_001195794.1:c.86G>T , LRG_700t1:c.86G>T	NP_001182723.1:p.Gly29Val
NM_001256819.1:c.86G>T	NP_001243748.1:p.Gly29Val
NM_174878.2:c.86G>T	NP_777367.1:p.Gly29Val
NR_046380.2:n.377G>T
XR_924167.1:n.398G>T
NM_001256819.2:c.86G>T	NP_001243748.1:p.Gly29Val
NM_174878.3:c.86G>T MANE Select	NP_777367.1:p.Gly29Val
NR_046380.3:n.105G>T