Canonical Allele Identifier: CA410778209

Gene: LZTR1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20982573T>C , CM000684.2:g.20982573T>C	GRCh38
NC_000022.10:g.21336862T>C , CM000684.1:g.21336862T>C	GRCh37
NC_000022.9:g.19666862T>C	NCBI36
NG_034193.1:g.5305T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006767.4:c.200+2T>C MANE Select	NP_006758.2:n.200+2T>C
ENST00000646124.2:c.200+2T>C MANE Select	ENSP00000496779.1:n.200+2T>C
NM_006767.3:c.200+2T>C	NP_006758.2:n.200+2T>C
ENST00000215739.12:c.200+2T>C	ENSP00000215739.8:n.200+2T>C
ENST00000414985.5:c.200+2T>C	ENSP00000397247.1:n.200+2T>C
ENST00000443265.5:c.202T>C	ENSP00000406466.1:p.Tyr68His
ENST00000479606.5:n.347-454T>C
ENST00000493460.1:n.275+2T>C
ENST00000493460.2:n.275+2T>C
ENST00000642151.1:c.78+2T>C
ENST00000644435.1:c.106+2T>C
ENST00000645935.1:c.200+2T>C	ENSP00000493479.1:n.200+2T>C
ENST00000700578.1:c.200+2T>C	ENSP00000515073.1:n.200+2T>C