Canonical Allele Identifier: CA410775381
Community Standard Title: NM_006767.4(LZTR1):c.1449G>C (p.Gln483His)
Gene: LZTR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20994019G>C , CM000684.2:g.20994019G>C GRCh38
NC_000022.10:g.21348308G>C , CM000684.1:g.21348308G>C GRCh37
NC_000022.9:g.19678308G>C NCBI36
NG_034193.1:g.16751G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006767.4:c.1449G>C MANE Select NP_006758.2:p.Gln483His
ENST00000646124.2:c.1449G>C MANE Select ENSP00000496779.1:p.Gln483His
NM_006767.3:c.1449G>C NP_006758.2:p.Gln483His
ENST00000215739.12:c.1449G>C ENSP00000215739.8:p.Gln483His
ENST00000479606.5:n.1595G>C
ENST00000492480.1:n.498G>C
ENST00000495142.6:n.794G>C
ENST00000642151.1:c.1280G>C
ENST00000643578.1:n.1471G>C
ENST00000643710.1:n.310G>C
ENST00000646506.1:n.1028G>C
ENST00000700578.1:c.1449G>C ENSP00000515073.1:p.Gln483His
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