Canonical Allele Identifier: CA5573244

Gene: ZMIZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79312766G>C , CM000672.2:g.79312766G>C	GRCh38
NC_000010.10:g.81072523G>C , CM000672.1:g.81072523G>C	GRCh37
NC_000010.9:g.80742529G>C	NCBI36
NG_028289.1:g.248732G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020338.4:c.*17G>C MANE Select	NP_065071.1:n.*17G>C
ENST00000334512.10:c.*17G>C MANE Select	ENSP00000334474.5:n.*17G>C
NM_020338.3:c.*17G>C	NP_065071.1:n.*17G>C
ENST00000334512.9:c.*17G>C	ENSP00000334474.5:n.*17G>C
ENST00000446377.3:c.2924G>C	ENSP00000401558.3:n.2924G>C
ENST00000611351.1:c.459-1288G>C	ENSP00000481736.1:n.459-1288G>C
XM_005269987.3:c.*17G>C	XP_005270044.1:n.*17G>C
XM_005269987.5:c.*17G>C	XP_005270044.1:n.*17G>C
XM_005269988.2:c.*17G>C	XP_005270045.1:n.*17G>C
XM_005269988.3:c.*17G>C	XP_005270045.1:n.*17G>C
XM_006717923.2:c.*17G>C	XP_006717986.1:n.*17G>C
XM_006717923.3:c.*17G>C	XP_006717986.1:n.*17G>C
XM_006717924.2:c.*17G>C	XP_006717987.1:n.*17G>C
XM_006717924.3:c.*17G>C	XP_006717987.1:n.*17G>C
XM_006717925.2:c.*17G>C	XP_006717988.1:n.*17G>C
XM_006717925.3:c.*17G>C	XP_006717988.1:n.*17G>C
XM_011539978.1:c.*17G>C	XP_011538280.1:n.*17G>C
XM_011539978.2:c.*17G>C	XP_011538280.1:n.*17G>C
XM_011539979.1:c.*17G>C	XP_011538281.1:n.*17G>C
XM_011539980.1:c.*17G>C	XP_011538282.1:n.*17G>C
XM_011539980.3:c.*17G>C	XP_011538282.1:n.*17G>C
XM_017016440.2:c.*17G>C	XP_016871929.1:n.*17G>C
XM_017016441.1:c.*17G>C	XP_016871930.1:n.*17G>C
XM_017016442.1:c.*17G>C	XP_016871931.1:n.*17G>C
XM_017016443.1:c.*17G>C	XP_016871932.1:n.*17G>C