Canonical Allele Identifier: CA3825807

Gene: XPO5 POLR1C

Linked Data

• dbSNP Id: rs750353890
• ExAC: 6:43492344 T / C
• gnomAD v2: 6-43492344-T-C
• gnomAD v3: 6-43524606-T-C
• gnomAD v4: 6-43524606-T-C
• MyVariant Identifiers: chr6:g.43492344T>C (hg19) ; chr6:g.43524606T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43524606T>C , CM000668.2:g.43524606T>C	GRCh38
NC_000006.11:g.43492344T>C , CM000668.1:g.43492344T>C	GRCh37
NC_000006.10:g.43600322T>C	NCBI36
NG_028283.3:g.19905T>C
NG_051658.1:g.56470A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265351.12:c.3342A>G (XPO5) MANE Select	ENSP00000265351.7:p.Val1114=
ENST00000607635.2:c.922+3558T>C (POLR1C)	ENSP00000496683.1:n.922+3558T>C
ENST00000643341.1:c.922+3558T>C (POLR1C)	ENSP00000496018.1:n.922+3558T>C
ENST00000643799.1:c.*17+3289T>C (POLR1C)	ENSP00000494529.1:n.*17+3289T>C
ENST00000646433.1:c.922+3558T>C (POLR1C)	ENSP00000494368.1:n.922+3558T>C
ENST00000646700.1:c.922+3558T>C (POLR1C)	ENSP00000495521.1:n.922+3558T>C
ENST00000265351.11:c.3342A>G (XPO5)	ENSP00000265351.7:p.Val1114=
ENST00000304004.7:c.922+3558T>C (POLR1C)	ENSP00000307212.3:n.922+3558T>C
ENST00000455285.2:c.686A>G (XPO5)
ENST00000455854.2:n.1825A>G (XPO5)
ENST00000486936.2:c.529A>G (XPO5)
ENST00000488195.6:n.739A>G (XPO5)
NM_020750.2:c.3342A>G (XPO5)	NP_065801.1:p.Val1114=
XM_005249491.1:c.922+3558T>C (POLR1C)	XP_005249548.1:n.922+3558T>C
XM_011515000.1:c.922+3558T>C (POLR1C)	XP_011513302.1:n.922+3558T>C
NM_001318876.1:c.922+3558T>C (POLR1C)	NP_001305805.1:n.922+3558T>C
NM_001363658.1:c.922+3558T>C (POLR1C)	NP_001350587.1:n.922+3558T>C
NR_144392.1:n.3691A>G (XPO5)
NM_020750.3:c.3342A>G (XPO5) MANE Select	NP_065801.1:p.Val1114=
NM_001363658.2:c.922+3558T>C (POLR1C)	NP_001350587.1:n.922+3558T>C
NM_001318876.2:c.922+3558T>C (POLR1C)	NP_001305805.1:n.922+3558T>C
NR_144392.2:n.3654A>G (XPO5)