Canonical Allele Identifier: CA377340400

Gene: ZMIZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79302125C>T , CM000672.2:g.79302125C>T	GRCh38
NC_000010.10:g.81061882C>T , CM000672.1:g.81061882C>T	GRCh37
NC_000010.9:g.80731888C>T	NCBI36
NG_028289.1:g.238091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334512.10:c.2038C>T MANE Select	ENSP00000334474.5:p.Gln680Ter
ENST00000334512.9:c.2038C>T	ENSP00000334474.5:p.Gln680Ter
ENST00000446377.3:c.1753C>T	ENSP00000401558.3:p.Gln585Ter
ENST00000611351.1:c.459-11929C>T	ENSP00000481736.1:n.459-11929C>T
NM_020338.3:c.2038C>T	NP_065071.1:p.Gln680Ter
XM_005269987.3:c.2056C>T	XP_005270044.1:p.Gln686Ter
XM_005269988.2:c.2056C>T	XP_005270045.1:p.Gln686Ter
XM_006717923.2:c.2056C>T	XP_006717986.1:p.Gln686Ter
XM_006717924.2:c.2056C>T	XP_006717987.1:p.Gln686Ter
XM_006717925.2:c.2056C>T	XP_006717988.1:p.Gln686Ter
XM_011539978.1:c.1684C>T	XP_011538280.1:p.Gln562Ter
XM_011539979.1:c.1684C>T	XP_011538281.1:p.Gln562Ter
XM_011539980.1:c.1666C>T	XP_011538282.1:p.Gln556Ter
XM_005269987.5:c.2056C>T	XP_005270044.1:p.Gln686Ter
XM_005269988.3:c.2056C>T	XP_005270045.1:p.Gln686Ter
XM_006717923.3:c.2056C>T	XP_006717986.1:p.Gln686Ter
XM_006717924.3:c.2056C>T	XP_006717987.1:p.Gln686Ter
XM_006717925.3:c.2056C>T	XP_006717988.1:p.Gln686Ter
XM_011539978.2:c.1684C>T	XP_011538280.1:p.Gln562Ter
XM_011539980.3:c.1666C>T	XP_011538282.1:p.Gln556Ter
XM_017016440.2:c.1903C>T	XP_016871929.1:p.Gln635Ter
XM_017016441.1:c.1684C>T	XP_016871930.1:p.Gln562Ter
XM_017016442.1:c.1666C>T	XP_016871931.1:p.Gln556Ter
XM_017016443.1:c.1684C>T	XP_016871932.1:p.Gln562Ter
NM_020338.4:c.2038C>T MANE Select	NP_065071.1:p.Gln680Ter