Canonical Allele Identifier: CA10118715

Gene: LZTR1

Linked Data

• ClinVar Variation Id: 289969
• ClinVar RCV Id: RCV001706423 ; RCV001799649 ; RCV001813447 ; RCV002252087 ; RCV002429235 ; RCV003387519
• dbSNP Id: rs189150283
• ExAC: 22:21346593 C / T
• gnomAD v2: 22-21346593-C-T
• gnomAD v3: 22-20992304-C-T
• gnomAD v4: 22-20992304-C-T
• MyVariant Identifiers: chr22:g.21346593C>T (hg19) ; chr22:g.20992304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20992304C>T , CM000684.2:g.20992304C>T	GRCh38
NC_000022.10:g.21346593C>T , CM000684.1:g.21346593C>T	GRCh37
NC_000022.9:g.19676593C>T	NCBI36
NG_034193.1:g.15036C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700578.1:c.1084C>T	ENSP00000515073.1:p.Arg362Ter
ENST00000495142.6:n.429C>T
ENST00000642151.1:c.915C>T
ENST00000643578.1:n.1106C>T
ENST00000646124.2:c.1084C>T MANE Select	ENSP00000496779.1:p.Arg362Ter
ENST00000646506.1:n.663C>T
ENST00000215739.12:c.1084C>T	ENSP00000215739.8:p.Arg362Ter
ENST00000461510.1:n.185C>T
ENST00000479606.5:n.1230C>T
ENST00000492480.1:n.140C>T
ENST00000497716.5:n.911C>T
NM_006767.3:c.1084C>T	NP_006758.2:p.Arg362Ter
NM_006767.4:c.1084C>T MANE Select	NP_006758.2:p.Arg362Ter