Canonical Allele Identifier: CA410780478

Gene: LZTR1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20990419T>C , CM000684.2:g.20990419T>C	GRCh38
NC_000022.10:g.21344708T>C , CM000684.1:g.21344708T>C	GRCh37
NC_000022.9:g.19674708T>C	NCBI36
NG_034193.1:g.13151T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006767.4:c.685T>C MANE Select	NP_006758.2:p.Cys229Arg
ENST00000646124.2:c.685T>C MANE Select	ENSP00000496779.1:p.Cys229Arg
NM_006767.3:c.685T>C	NP_006758.2:p.Cys229Arg
ENST00000215739.12:c.685T>C	ENSP00000215739.8:p.Cys229Arg
ENST00000414985.5:c.*251T>C	ENSP00000397247.1:n.*251T>C
ENST00000479606.5:n.831T>C
ENST00000480895.1:n.381T>C
ENST00000497716.5:n.68T>C
ENST00000642151.1:c.516T>C
ENST00000644435.1:c.507T>C
ENST00000646506.1:n.264T>C
ENST00000700578.1:c.685T>C	ENSP00000515073.1:p.Cys229Arg