Canonical Allele Identifier: CA354955816

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941692A>G , CM000665.2:g.150941692A>G	GRCh38
NC_000003.11:g.150659479A>G , CM000665.1:g.150659479A>G	GRCh37
NC_000003.10:g.152142169A>G	NCBI36
NG_009168.1:g.36308T>C , LRG_700:g.36308T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.323T>C MANE Select	NP_777367.1:p.Leu108Pro
ENST00000327047.6:c.323T>C MANE Select	ENSP00000322280.1:p.Leu108Pro
NM_001195794.1:c.323T>C , LRG_700t1:c.323T>C	NP_001182723.1:p.Leu108Pro
NM_001256819.1:c.495T>C	NP_001243748.1:p.Pro165=
NM_001256819.2:c.495T>C	NP_001243748.1:p.Pro165=
NM_052995.2:c.95T>C , LRG_700t2:c.95T>C	NP_443721.1:p.Leu32Pro
NM_174878.2:c.323T>C	NP_777367.1:p.Leu108Pro
NR_046380.2:n.765T>C
NR_046380.3:n.493T>C
ENST00000295911.6:c.95T>C	ENSP00000295911.2:p.Leu32Pro
ENST00000327047.5:c.323T>C	ENSP00000322280.1:p.Leu108Pro
ENST00000328863.8:c.323T>C	ENSP00000329158.4:p.Leu108Pro
ENST00000468836.1:c.95T>C	ENSP00000419892.1:p.Leu32Pro
ENST00000468836.2:c.471T>C	ENSP00000419892.2:p.Pro157=
ENST00000472224.1:n.329T>C
ENST00000485607.1:c.-14T>C	ENSP00000419244.1:n.-14T>C
ENST00000565169.1:c.52T>C
ENST00000569170.5:c.52T>C
ENST00000644099.1:c.315T>C	ENSP00000494762.1:n.315T>C
XR_924167.1:n.635T>C