Canonical Allele Identifier: CA385698140

Gene: NUP107

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68731651C>T , CM000674.2:g.68731651C>T	GRCh38
NC_000012.11:g.69125431C>T , CM000674.1:g.69125431C>T	GRCh37
NC_000012.10:g.67411698C>T	NCBI36
NG_046600.2:g.49701C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020401.4:c.1930C>T MANE Select	NP_065134.1:p.Arg644Ter
ENST00000229179.9:c.1930C>T MANE Select	ENSP00000229179.4:p.Arg644Ter
NM_001330192.1:c.1843C>T	NP_001317121.1:p.Arg615Ter
NM_001330192.2:c.1843C>T	NP_001317121.1:p.Arg615Ter
NM_020401.2:c.1930C>T	NP_065134.1:p.Arg644Ter
NM_020401.3:c.1930C>T	NP_065134.1:p.Arg644Ter
ENST00000229179.8:c.1930C>T	ENSP00000229179.4:p.Arg644Ter
ENST00000378905.6:c.1282-986C>T	ENSP00000368185.2:n.1282-986C>T
ENST00000535718.5:c.*1278-986C>T	ENSP00000445567.1:n.*1278-986C>T
ENST00000538993.1:c.591C>T	ENSP00000441334.1:n.591C>T
ENST00000539906.5:c.1843C>T	ENSP00000441448.1:p.Arg615Ter
XM_005269037.2:c.1870C>T	XP_005269094.1:p.Arg624Ter
XM_005269037.4:c.1870C>T	XP_005269094.1:p.Arg624Ter
XM_011538576.1:c.1843C>T	XP_011536878.1:p.Arg615Ter