Canonical Allele Identifier: CA410780389
Community Standard Title: NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter)
Gene: LZTR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20989680G>T , CM000684.2:g.20989680G>T GRCh38
NC_000022.10:g.21343969G>T , CM000684.1:g.21343969G>T GRCh37
NC_000022.9:g.19673969G>T NCBI36
NG_034193.1:g.12412G>T

Transcript Alleles

HGVS Amino-acid Change
NM_006767.4:c.649G>T MANE Select NP_006758.2:p.Glu217Ter
ENST00000646124.2:c.649G>T MANE Select ENSP00000496779.1:p.Glu217Ter
NM_006767.3:c.649G>T NP_006758.2:p.Glu217Ter
ENST00000215739.12:c.649G>T ENSP00000215739.8:p.Glu217Ter
ENST00000414985.5:c.*215G>T ENSP00000397247.1:n.*215G>T
ENST00000479606.5:n.795G>T
ENST00000480895.1:n.345G>T
ENST00000497716.5:n.32G>T
ENST00000642151.1:c.480G>T
ENST00000644435.1:c.471G>T
ENST00000646506.1:n.228G>T
ENST00000700578.1:c.649G>T ENSP00000515073.1:p.Glu217Ter