Canonical Allele Identifier: CA355011949

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972555G>A , CM000665.2:g.150972555G>A	GRCh38
NC_000003.11:g.150690342G>A , CM000665.1:g.150690342G>A	GRCh37
NC_000003.10:g.152173032G>A	NCBI36
NG_009168.1:g.5445C>T , LRG_700:g.5445C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.154C>T MANE Select	NP_777367.1:p.Gln52Ter
ENST00000327047.6:c.154C>T MANE Select	ENSP00000322280.1:p.Gln52Ter
NM_001195794.1:c.154C>T , LRG_700t1:c.154C>T	NP_001182723.1:p.Gln52Ter
NM_001256819.1:c.154C>T	NP_001243748.1:p.Gln52Ter
NM_001256819.2:c.154C>T	NP_001243748.1:p.Gln52Ter
NM_174878.2:c.154C>T	NP_777367.1:p.Gln52Ter
NR_046380.2:n.445C>T
NR_046380.3:n.173C>T
ENST00000327047.5:c.154C>T	ENSP00000322280.1:p.Gln52Ter
ENST00000328863.8:c.154C>T	ENSP00000329158.4:p.Gln52Ter
ENST00000468836.1:c.-247C>T	ENSP00000419892.1:n.-247C>T
ENST00000468836.2:c.130C>T	ENSP00000419892.2:p.Gln44Ter
ENST00000472224.1:n.160C>T
XR_924167.1:n.466C>T