Canonical Allele Identifier: CA354955292

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659375T>G (hg19) ; chr3:g.150941588T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941588T>G , CM000665.2:g.150941588T>G	GRCh38
NC_000003.11:g.150659375T>G , CM000665.1:g.150659375T>G	GRCh37
NC_000003.10:g.152142065T>G	NCBI36
NG_009168.1:g.36412A>C , LRG_700:g.36412A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.427A>C MANE Select	ENSP00000322280.1:p.Ile143Leu
ENST00000468836.2:c.575A>C	ENSP00000419892.2:n.575A>C
ENST00000644099.1:c.419A>C	ENSP00000494762.1:n.419A>C
ENST00000295911.6:c.199A>C	ENSP00000295911.2:p.Ile67Leu
ENST00000327047.5:c.427A>C	ENSP00000322280.1:p.Ile143Leu
ENST00000328863.8:c.427A>C	ENSP00000329158.4:p.Ile143Leu
ENST00000468836.1:c.199A>C	ENSP00000419892.1:p.Ile67Leu
ENST00000472224.1:n.433A>C
ENST00000485607.1:c.91A>C	ENSP00000419244.1:p.Ile31Leu
ENST00000562308.5:c.98A>C
ENST00000565169.1:c.156A>C
ENST00000569170.5:c.156A>C
NM_001195794.1:c.427A>C , LRG_700t1:c.427A>C	NP_001182723.1:p.Ile143Leu
NM_001256819.1:c.*41A>C	NP_001243748.1:n.*41A>C
NM_052995.2:c.199A>C , LRG_700t2:c.199A>C	NP_443721.1:p.Ile67Leu
NM_174878.2:c.427A>C	NP_777367.1:p.Ile143Leu
NR_046380.2:n.869A>C
XR_924167.1:n.739A>C
NM_001256819.2:c.*41A>C	NP_001243748.1:n.*41A>C
NM_174878.3:c.427A>C MANE Select	NP_777367.1:p.Ile143Leu
NR_046380.3:n.597A>C