Canonical Allele Identifier: CA10119384

Gene: LZTR1

Linked Data

• ClinVar Variation Id: 423930
• ClinVar RCV Id: RCV000481440 ; RCV001507320 ; RCV002455940 ; RCV003470588
• dbSNP Id: rs141672122
• ExAC: 22:21351236 T / C
• gnomAD v2: 22-21351236-T-C
• gnomAD v3: 22-20996947-T-C
• gnomAD v4: 22-20996947-T-C
• MyVariant Identifiers: chr22:g.21351236T>C (hg19) ; chr22:g.20996947T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20996947T>C , CM000684.2:g.20996947T>C	GRCh38
NC_000022.10:g.21351236T>C , CM000684.1:g.21351236T>C	GRCh37
NC_000022.9:g.19681236T>C	NCBI36
NG_034193.1:g.19679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700578.1:c.2325+146T>C	ENSP00000515073.1:n.2325+146T>C
ENST00000415817.2:c.816T>C
ENST00000495142.6:n.2739T>C
ENST00000642151.1:c.2218T>C
ENST00000643578.1:n.2409T>C
ENST00000643710.1:n.1248T>C
ENST00000646124.2:c.2387T>C MANE Select	ENSP00000496779.1:p.Ile796Thr
ENST00000646506.1:n.2254T>C
ENST00000215739.12:c.2387T>C	ENSP00000215739.8:p.Ile796Thr
ENST00000415817.1:c.285T>C
ENST00000452988.5:c.549T>C	ENSP00000408789.1:n.549T>C
ENST00000463909.1:n.1685T>C
ENST00000479606.5:n.2533T>C
ENST00000498649.1:n.487T>C
NM_006767.3:c.2387T>C	NP_006758.2:p.Ile796Thr
NM_006767.4:c.2387T>C MANE Select	NP_006758.2:p.Ile796Thr