Canonical Allele Identifier: CA377342719

Gene: ZMIZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79306249T>C , CM000672.2:g.79306249T>C	GRCh38
NC_000010.10:g.81066006T>C , CM000672.1:g.81066006T>C	GRCh37
NC_000010.9:g.80736012T>C	NCBI36
NG_028289.1:g.242215T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334512.10:c.2573T>C MANE Select	ENSP00000334474.5:p.Val858Ala
ENST00000334512.9:c.2573T>C	ENSP00000334474.5:p.Val858Ala
ENST00000446377.3:c.2279T>C	ENSP00000401558.3:p.Val760Ala
ENST00000611351.1:c.459-7805T>C	ENSP00000481736.1:n.459-7805T>C
NM_020338.3:c.2573T>C	NP_065071.1:p.Val858Ala
XM_005269987.3:c.2591T>C	XP_005270044.1:p.Val864Ala
XM_005269988.2:c.2591T>C	XP_005270045.1:p.Val864Ala
XM_006717923.2:c.2591T>C	XP_006717986.1:p.Val864Ala
XM_006717924.2:c.2591T>C	XP_006717987.1:p.Val864Ala
XM_006717925.2:c.2591T>C	XP_006717988.1:p.Val864Ala
XM_011539978.1:c.2219T>C	XP_011538280.1:p.Val740Ala
XM_011539979.1:c.2219T>C	XP_011538281.1:p.Val740Ala
XM_011539980.1:c.2201T>C	XP_011538282.1:p.Val734Ala
XM_005269987.5:c.2591T>C	XP_005270044.1:p.Val864Ala
XM_005269988.3:c.2591T>C	XP_005270045.1:p.Val864Ala
XM_006717923.3:c.2591T>C	XP_006717986.1:p.Val864Ala
XM_006717924.3:c.2591T>C	XP_006717987.1:p.Val864Ala
XM_006717925.3:c.2591T>C	XP_006717988.1:p.Val864Ala
XM_011539978.2:c.2219T>C	XP_011538280.1:p.Val740Ala
XM_011539980.3:c.2201T>C	XP_011538282.1:p.Val734Ala
XM_017016440.2:c.2438T>C	XP_016871929.1:p.Val813Ala
XM_017016441.1:c.2219T>C	XP_016871930.1:p.Val740Ala
XM_017016442.1:c.2201T>C	XP_016871931.1:p.Val734Ala
XM_017016443.1:c.2219T>C	XP_016871932.1:p.Val740Ala
NM_020338.4:c.2573T>C MANE Select	NP_065071.1:p.Val858Ala