Canonical Allele Identifier: CA436265556

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659544A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941757A>G , CM000665.2:g.150941757A>G	GRCh38
NC_000003.11:g.150659544A>G , CM000665.1:g.150659544A>G	GRCh37
NC_000003.10:g.152142234A>G	NCBI36
NG_009168.1:g.36243T>C , LRG_700:g.36243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.258T>C MANE Select	ENSP00000322280.1:p.Phe86=
ENST00000468836.2:c.406T>C	ENSP00000419892.2:p.Ser136Pro
ENST00000644099.1:c.250T>C	ENSP00000494762.1:n.250T>C
ENST00000295911.6:c.30T>C	ENSP00000295911.2:p.Phe10=
ENST00000327047.5:c.258T>C	ENSP00000322280.1:p.Phe86=
ENST00000328863.8:c.258T>C	ENSP00000329158.4:p.Phe86=
ENST00000468836.1:c.30T>C	ENSP00000419892.1:p.Phe10=
ENST00000472224.1:n.264T>C
ENST00000485607.1:c.-79T>C	ENSP00000419244.1:n.-79T>C
NM_001195794.1:c.258T>C , LRG_700t1:c.258T>C	NP_001182723.1:p.Phe86=
NM_001256819.1:c.430T>C	NP_001243748.1:p.Ser144Pro
NM_052995.2:c.30T>C , LRG_700t2:c.30T>C	NP_443721.1:p.Phe10=
NM_174878.2:c.258T>C	NP_777367.1:p.Phe86=
NR_046380.2:n.700T>C
XR_924167.1:n.570T>C
NM_001256819.2:c.430T>C	NP_001243748.1:p.Ser144Pro
NM_174878.3:c.258T>C MANE Select	NP_777367.1:p.Phe86=
NR_046380.3:n.428T>C