Canonical Allele Identifier: CA354955559

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659444T>G (hg19) ; chr3:g.150941657T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941657T>G , CM000665.2:g.150941657T>G	GRCh38
NC_000003.11:g.150659444T>G , CM000665.1:g.150659444T>G	GRCh37
NC_000003.10:g.152142134T>G	NCBI36
NG_009168.1:g.36343A>C , LRG_700:g.36343A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.358A>C MANE Select	ENSP00000322280.1:p.Met120Leu
ENST00000468836.2:c.506A>C	ENSP00000419892.2:p.His169Pro
ENST00000644099.1:c.350A>C	ENSP00000494762.1:n.350A>C
ENST00000295911.6:c.130A>C	ENSP00000295911.2:p.Met44Leu
ENST00000327047.5:c.358A>C	ENSP00000322280.1:p.Met120Leu
ENST00000328863.8:c.358A>C	ENSP00000329158.4:p.Met120Leu
ENST00000468836.1:c.130A>C	ENSP00000419892.1:p.Met44Leu
ENST00000472224.1:n.364A>C
ENST00000485607.1:c.22A>C	ENSP00000419244.1:p.Met8Leu
ENST00000562308.5:c.29A>C
ENST00000565169.1:c.87A>C
ENST00000569170.5:c.87A>C
NM_001195794.1:c.358A>C , LRG_700t1:c.358A>C	NP_001182723.1:p.Met120Leu
NM_001256819.1:c.530A>C	NP_001243748.1:p.His177Pro
NM_052995.2:c.130A>C , LRG_700t2:c.130A>C	NP_443721.1:p.Met44Leu
NM_174878.2:c.358A>C	NP_777367.1:p.Met120Leu
NR_046380.2:n.800A>C
XR_924167.1:n.670A>C
NM_001256819.2:c.530A>C	NP_001243748.1:p.His177Pro
NM_174878.3:c.358A>C MANE Select	NP_777367.1:p.Met120Leu
NR_046380.3:n.528A>C