Canonical Allele Identifier: CA10118448

Gene: LZTR1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20988108A>C , CM000684.2:g.20988108A>C	GRCh38
NC_000022.10:g.21342397A>C , CM000684.1:g.21342397A>C	GRCh37
NC_000022.9:g.19672397A>C	NCBI36
NG_034193.1:g.10840A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006767.4:c.499A>C MANE Select	NP_006758.2:p.Ile167Leu
ENST00000646124.2:c.499A>C MANE Select	ENSP00000496779.1:p.Ile167Leu
NM_006767.3:c.499A>C	NP_006758.2:p.Ile167Leu
ENST00000215739.12:c.499A>C	ENSP00000215739.8:p.Ile167Leu
ENST00000414985.5:c.*65A>C	ENSP00000397247.1:n.*65A>C
ENST00000443265.5:c.*198A>C	ENSP00000406466.1:n.*198A>C
ENST00000479606.5:n.645A>C
ENST00000480895.1:n.195A>C
ENST00000642151.1:c.330A>C
ENST00000644435.1:c.405A>C
ENST00000645935.1:c.442A>C	ENSP00000493479.1:p.Ile148Leu
ENST00000646506.1:n.78A>C
ENST00000700578.1:c.499A>C	ENSP00000515073.1:p.Ile167Leu