Canonical Allele Identifier: CA410779302
Community Standard Title: NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly)
Gene: LZTR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20987530C>G , CM000684.2:g.20987530C>G GRCh38
NC_000022.10:g.21341819C>G , CM000684.1:g.21341819C>G GRCh37
NC_000022.9:g.19671819C>G NCBI36
NG_034193.1:g.10262C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006767.4:c.347C>G MANE Select NP_006758.2:p.Ala116Gly
ENST00000646124.2:c.347C>G MANE Select ENSP00000496779.1:p.Ala116Gly
NM_006767.3:c.347C>G NP_006758.2:p.Ala116Gly
ENST00000215739.12:c.347C>G ENSP00000215739.8:p.Ala116Gly
ENST00000414985.5:c.321-480C>G ENSP00000397247.1:n.321-480C>G
ENST00000443265.5:c.*46C>G ENSP00000406466.1:n.*46C>G
ENST00000479606.5:n.493C>G
ENST00000480895.1:n.97-480C>G
ENST00000642151.1:c.232-480C>G
ENST00000644435.1:c.253C>G
ENST00000645935.1:c.290C>G ENSP00000493479.1:p.Ala97Gly
ENST00000700578.1:c.347C>G ENSP00000515073.1:p.Ala116Gly