Canonical Allele Identifier: CA410775383
Community Standard Title: NM_006767.4(LZTR1):c.1449G>T (p.Gln483His)
Gene: LZTR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20994019G>T , CM000684.2:g.20994019G>T GRCh38
NC_000022.10:g.21348308G>T , CM000684.1:g.21348308G>T GRCh37
NC_000022.9:g.19678308G>T NCBI36
NG_034193.1:g.16751G>T

Transcript Alleles

HGVS Amino-acid Change
NM_006767.4:c.1449G>T MANE Select NP_006758.2:p.Gln483His
ENST00000646124.2:c.1449G>T MANE Select ENSP00000496779.1:p.Gln483His
NM_006767.3:c.1449G>T NP_006758.2:p.Gln483His
ENST00000215739.12:c.1449G>T ENSP00000215739.8:p.Gln483His
ENST00000479606.5:n.1595G>T
ENST00000492480.1:n.498G>T
ENST00000495142.6:n.794G>T
ENST00000642151.1:c.1280G>T
ENST00000643578.1:n.1471G>T
ENST00000643710.1:n.310G>T
ENST00000646506.1:n.1028G>T
ENST00000700578.1:c.1449G>T ENSP00000515073.1:p.Gln483His