Canonical Allele Identifier: CA354956125

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941744T>A , CM000665.2:g.150941744T>A	GRCh38
NC_000003.11:g.150659531T>A , CM000665.1:g.150659531T>A	GRCh37
NC_000003.10:g.152142221T>A	NCBI36
NG_009168.1:g.36256A>T , LRG_700:g.36256A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.271A>T MANE Select	NP_777367.1:p.Lys91Ter
ENST00000327047.6:c.271A>T MANE Select	ENSP00000322280.1:p.Lys91Ter
NM_001195794.1:c.271A>T , LRG_700t1:c.271A>T	NP_001182723.1:p.Lys91Ter
NM_001256819.1:c.443A>T	NP_001243748.1:p.Gln148Leu
NM_001256819.2:c.443A>T	NP_001243748.1:p.Gln148Leu
NM_052995.2:c.43A>T , LRG_700t2:c.43A>T	NP_443721.1:p.Lys15Ter
NM_174878.2:c.271A>T	NP_777367.1:p.Lys91Ter
NR_046380.2:n.713A>T
NR_046380.3:n.441A>T
ENST00000295911.6:c.43A>T	ENSP00000295911.2:p.Lys15Ter
ENST00000327047.5:c.271A>T	ENSP00000322280.1:p.Lys91Ter
ENST00000328863.8:c.271A>T	ENSP00000329158.4:p.Lys91Ter
ENST00000468836.1:c.43A>T	ENSP00000419892.1:p.Lys15Ter
ENST00000468836.2:c.419A>T	ENSP00000419892.2:p.Gln140Leu
ENST00000472224.1:n.277A>T
ENST00000485607.1:c.-66A>T	ENSP00000419244.1:n.-66A>T
ENST00000644099.1:c.263A>T	ENSP00000494762.1:n.263A>T
XR_924167.1:n.583A>T