Canonical Allele Identifier: CA377337501

Gene: ZMIZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79298548A>G , CM000672.2:g.79298548A>G	GRCh38
NC_000010.10:g.81058305A>G , CM000672.1:g.81058305A>G	GRCh37
NC_000010.9:g.80728311A>G	NCBI36
NG_028289.1:g.234514A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334512.10:c.1634A>G MANE Select	ENSP00000334474.5:p.Lys545Arg
ENST00000334512.9:c.1634A>G	ENSP00000334474.5:p.Lys545Arg
ENST00000446377.3:c.1355A>G	ENSP00000401558.3:p.Lys452Arg
ENST00000611351.1:c.458+8741A>G	ENSP00000481736.1:n.458+8741A>G
NM_020338.3:c.1634A>G	NP_065071.1:p.Lys545Arg
XM_005269987.3:c.1652A>G	XP_005270044.1:p.Lys551Arg
XM_005269988.2:c.1652A>G	XP_005270045.1:p.Lys551Arg
XM_006717923.2:c.1652A>G	XP_006717986.1:p.Lys551Arg
XM_006717924.2:c.1652A>G	XP_006717987.1:p.Lys551Arg
XM_006717925.2:c.1652A>G	XP_006717988.1:p.Lys551Arg
XM_011539978.1:c.1280A>G	XP_011538280.1:p.Lys427Arg
XM_011539979.1:c.1280A>G	XP_011538281.1:p.Lys427Arg
XM_011539980.1:c.1262A>G	XP_011538282.1:p.Lys421Arg
XM_005269987.5:c.1652A>G	XP_005270044.1:p.Lys551Arg
XM_005269988.3:c.1652A>G	XP_005270045.1:p.Lys551Arg
XM_006717923.3:c.1652A>G	XP_006717986.1:p.Lys551Arg
XM_006717924.3:c.1652A>G	XP_006717987.1:p.Lys551Arg
XM_006717925.3:c.1652A>G	XP_006717988.1:p.Lys551Arg
XM_011539978.2:c.1280A>G	XP_011538280.1:p.Lys427Arg
XM_011539980.3:c.1262A>G	XP_011538282.1:p.Lys421Arg
XM_017016440.2:c.1499A>G	XP_016871929.1:p.Lys500Arg
XM_017016441.1:c.1280A>G	XP_016871930.1:p.Lys427Arg
XM_017016442.1:c.1262A>G	XP_016871931.1:p.Lys421Arg
XM_017016443.1:c.1280A>G	XP_016871932.1:p.Lys427Arg
NM_020338.4:c.1634A>G MANE Select	NP_065071.1:p.Lys545Arg