Canonical Allele Identifier: CA410780579
Community Standard Title: NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro)
Gene: LZTR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20990464T>C , CM000684.2:g.20990464T>C GRCh38
NC_000022.10:g.21344753T>C , CM000684.1:g.21344753T>C GRCh37
NC_000022.9:g.19674753T>C NCBI36
NG_034193.1:g.13196T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006767.4:c.730T>C MANE Select NP_006758.2:p.Ser244Pro
ENST00000646124.2:c.730T>C MANE Select ENSP00000496779.1:p.Ser244Pro
NM_006767.3:c.730T>C NP_006758.2:p.Ser244Pro
ENST00000215739.12:c.730T>C ENSP00000215739.8:p.Ser244Pro
ENST00000414985.5:c.*296T>C ENSP00000397247.1:n.*296T>C
ENST00000479606.5:n.876T>C
ENST00000480895.1:n.426T>C
ENST00000497716.5:n.113T>C
ENST00000642151.1:c.561T>C
ENST00000644435.1:c.552T>C
ENST00000646506.1:n.309T>C
ENST00000700578.1:c.730T>C ENSP00000515073.1:p.Ser244Pro