Canonical Allele Identifier: CA354955383

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150941605-A-G
• MyVariant Identifiers: chr3:g.150659392A>G (hg19) ; chr3:g.150941605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941605A>G , CM000665.2:g.150941605A>G	GRCh38
NC_000003.11:g.150659392A>G , CM000665.1:g.150659392A>G	GRCh37
NC_000003.10:g.152142082A>G	NCBI36
NG_009168.1:g.36395T>C , LRG_700:g.36395T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.410T>C MANE Select	ENSP00000322280.1:p.Leu137Pro
ENST00000468836.2:c.558T>C	ENSP00000419892.2:n.558T>C
ENST00000644099.1:c.402T>C	ENSP00000494762.1:n.402T>C
ENST00000295911.6:c.182T>C	ENSP00000295911.2:p.Leu61Pro
ENST00000327047.5:c.410T>C	ENSP00000322280.1:p.Leu137Pro
ENST00000328863.8:c.410T>C	ENSP00000329158.4:p.Leu137Pro
ENST00000468836.1:c.182T>C	ENSP00000419892.1:p.Leu61Pro
ENST00000472224.1:n.416T>C
ENST00000485607.1:c.74T>C	ENSP00000419244.1:p.Leu25Pro
ENST00000562308.5:c.81T>C
ENST00000565169.1:c.139T>C
ENST00000569170.5:c.139T>C
NM_001195794.1:c.410T>C , LRG_700t1:c.410T>C	NP_001182723.1:p.Leu137Pro
NM_001256819.1:c.*24T>C	NP_001243748.1:n.*24T>C
NM_052995.2:c.182T>C , LRG_700t2:c.182T>C	NP_443721.1:p.Leu61Pro
NM_174878.2:c.410T>C	NP_777367.1:p.Leu137Pro
NR_046380.2:n.852T>C
XR_924167.1:n.722T>C
NM_001256819.2:c.*24T>C	NP_001243748.1:n.*24T>C
NM_174878.3:c.410T>C MANE Select	NP_777367.1:p.Leu137Pro
NR_046380.3:n.580T>C