Canonical Allele Identifier: CA410774192

Gene: LZTR1

Linked Data

• ClinVar Variation Id: 2068131
• ClinVar RCV Id: RCV002970923
• dbSNP Id: rs143868364
• gnomAD v4: 22-20992905-G-C
• MyVariant Identifiers: chr22:g.21347194G>C (hg19) ; chr22:g.20992905G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20992905G>C , CM000684.2:g.20992905G>C	GRCh38
NC_000022.10:g.21347194G>C , CM000684.1:g.21347194G>C	GRCh37
NC_000022.9:g.19677194G>C	NCBI36
NG_034193.1:g.15637G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700578.1:c.1260+1G>C	ENSP00000515073.1:n.1260+1G>C
ENST00000495142.6:n.605+1G>C
ENST00000642151.1:c.1091+1G>C
ENST00000643578.1:n.1282+1G>C
ENST00000646124.2:c.1260+1G>C MANE Select	ENSP00000496779.1:n.1260+1G>C
ENST00000646506.1:n.839+1G>C
ENST00000215739.12:c.1260+1G>C	ENSP00000215739.8:n.1260+1G>C
ENST00000479606.5:n.1406+1G>C
ENST00000492480.1:n.309+8G>C
NM_006767.3:c.1260+1G>C	NP_006758.2:n.1260+1G>C
NM_006767.4:c.1260+1G>C MANE Select	NP_006758.2:n.1260+1G>C