Canonical Allele Identifier: CA580946661
Gene: LZTS1 HGNC NCBI

Linked Data

dbSNP Id: rs568823247
gnomAD v2: 8-20111115-G-T
gnomAD v3: 8-20253604-G-T
gnomAD v4: 8-20253604-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20253604G>T , CM000670.2:g.20253604G>T GRCh38
NC_000008.10:g.20111115G>T , CM000670.1:g.20111115G>T GRCh37
NC_000008.9:g.20155395G>T NCBI36
NG_015834.2:g.6689C>A
NG_015834.3:g.55378C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265801.6:c.346-19C>A ENSP00000265801.6:n.346-19C>A
ENST00000381569.5:c.346-19C>A MANE Select ENSP00000370981.1:n.346-19C>A
ENST00000522290.5:c.346-19C>A ENSP00000429263.1:n.346-19C>A
ENST00000616228.1:c.157+1421C>A ENSP00000479534.1:n.157+1421C>A
NM_021020.3:c.346-19C>A NP_066300.1:n.346-19C>A
XM_005273394.3:c.346-19C>A XP_005273451.1:n.346-19C>A
XM_011544383.1:c.346-19C>A XP_011542685.1:n.346-19C>A
XM_011544384.1:c.346-19C>A XP_011542686.1:n.346-19C>A
XM_011544385.1:c.346-19C>A XP_011542687.1:n.346-19C>A
XM_011544386.1:c.346-19C>A XP_011542688.1:n.346-19C>A
XM_011544387.1:c.346-19C>A XP_011542689.1:n.346-19C>A
NM_001362884.1:c.346-19C>A NP_001349813.1:n.346-19C>A
NM_021020.4:c.346-19C>A NP_066300.1:n.346-19C>A
XM_011544384.2:c.346-19C>A XP_011542686.1:n.346-19C>A
XM_011544385.2:c.346-19C>A XP_011542687.1:n.346-19C>A
XM_011544386.2:c.346-19C>A XP_011542688.1:n.346-19C>A
NM_021020.5:c.346-19C>A MANE Select NP_066300.1:n.346-19C>A
NM_001362884.2:c.346-19C>A NP_001349813.1:n.346-19C>A