Canonical Allele Identifier: CA410781690

Gene: LZTR1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20991831T>C , CM000684.2:g.20991831T>C	GRCh38
NC_000022.10:g.21346120T>C , CM000684.1:g.21346120T>C	GRCh37
NC_000022.9:g.19676120T>C	NCBI36
NG_034193.1:g.14563T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006767.4:c.993+2T>C MANE Select	NP_006758.2:n.993+2T>C
ENST00000646124.2:c.993+2T>C MANE Select	ENSP00000496779.1:n.993+2T>C
NM_006767.3:c.993+2T>C	NP_006758.2:n.993+2T>C
ENST00000215739.12:c.993+2T>C	ENSP00000215739.8:n.993+2T>C
ENST00000461510.1:n.94+2T>C
ENST00000479606.5:n.1139+2T>C
ENST00000492480.1:n.49+2T>C
ENST00000495142.6:n.338+2T>C
ENST00000497716.5:n.820+2T>C
ENST00000642151.1:c.824+2T>C
ENST00000643578.1:n.1015+2T>C
ENST00000646506.1:n.572+2T>C
ENST00000700578.1:c.993+2T>C	ENSP00000515073.1:n.993+2T>C