Canonical Allele Identifier: CA385696396

Gene: NUP107

Linked Data

• MyVariant Identifiers: chr12:g.69084526G>T (hg19) ; chr12:g.68690746G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68690746G>T , CM000674.2:g.68690746G>T	GRCh38
NC_000012.11:g.69084526G>T , CM000674.1:g.69084526G>T	GRCh37
NC_000012.10:g.67370793G>T	NCBI36
NG_046600.2:g.8796G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229179.9:c.303G>T MANE Select	ENSP00000229179.4:p.Met101Ile
ENST00000229179.8:c.303G>T	ENSP00000229179.4:p.Met101Ile
ENST00000378905.6:c.-151G>T	ENSP00000368185.2:n.-151G>T
ENST00000535333.5:n.377G>T
ENST00000535718.5:c.303G>T	ENSP00000445567.1:p.Met101Ile
ENST00000537598.5:n.369G>T
ENST00000538549.1:c.3G>T	ENSP00000440116.1:p.Met1Ile
ENST00000539373.1:n.76G>T
ENST00000539906.5:c.216G>T	ENSP00000441448.1:p.Met72Ile
ENST00000545140.1:n.279G>T
NM_020401.2:c.303G>T	NP_065134.1:p.Met101Ile
XM_005269037.2:c.303G>T	XP_005269094.1:p.Met101Ile
XM_011538576.1:c.216G>T	XP_011536878.1:p.Met72Ile
NM_001330192.1:c.216G>T	NP_001317121.1:p.Met72Ile
NM_020401.3:c.303G>T	NP_065134.1:p.Met101Ile
XM_005269037.4:c.303G>T	XP_005269094.1:p.Met101Ile
NM_020401.4:c.303G>T MANE Select	NP_065134.1:p.Met101Ile
NM_001330192.2:c.216G>T	NP_001317121.1:p.Met72Ile