Canonical Allele Identifier: CA2678874293

Gene: XPO5 POLR1C

Linked Data

• gnomAD v4: 6-43523220-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43523220G>T , CM000668.2:g.43523220G>T	GRCh38
NC_000006.11:g.43490958G>T , CM000668.1:g.43490958G>T	GRCh37
NC_000006.10:g.43598936G>T	NCBI36
NG_028283.1:g.11182G>T
NG_028283.3:g.18519G>T
NG_051658.1:g.57856C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265351.12:c.*648C>A (XPO5) MANE Select	ENSP00000265351.7:n.*648C>A
ENST00000607635.2:c.922+2172G>T (POLR1C)	ENSP00000496683.1:n.922+2172G>T
ENST00000643341.1:c.922+2172G>T (POLR1C)	ENSP00000496018.1:n.922+2172G>T
ENST00000643799.1:c.*17+1903G>T (POLR1C)	ENSP00000494529.1:n.*17+1903G>T
ENST00000646433.1:c.922+2172G>T (POLR1C)	ENSP00000494368.1:n.922+2172G>T
ENST00000646700.1:c.922+2172G>T (POLR1C)	ENSP00000495521.1:n.922+2172G>T
ENST00000265351.11:c.*648C>A (XPO5)	ENSP00000265351.7:n.*648C>A
ENST00000304004.7:c.922+2172G>T (POLR1C)	ENSP00000307212.3:n.922+2172G>T
ENST00000455854.2:n.2746C>A (XPO5)
NM_020750.2:c.*648C>A (XPO5)	NP_065801.1:n.*648C>A
XM_005249491.1:c.922+2172G>T (POLR1C)	XP_005249548.1:n.922+2172G>T
XM_011515000.1:c.922+2172G>T (POLR1C)	XP_011513302.1:n.922+2172G>T
NM_001318876.1:c.922+2172G>T (POLR1C)	NP_001305805.1:n.922+2172G>T
NM_001363658.1:c.922+2172G>T (POLR1C)	NP_001350587.1:n.922+2172G>T
NR_144392.1:n.4612C>A (XPO5)
NM_020750.3:c.*648C>A (XPO5) MANE Select	NP_065801.1:n.*648C>A
NM_001363658.2:c.922+2172G>T (POLR1C)	NP_001350587.1:n.922+2172G>T
NM_001318876.2:c.922+2172G>T (POLR1C)	NP_001305805.1:n.922+2172G>T
NR_144392.2:n.4575C>A (XPO5)