Canonical Allele Identifier: CA364288060

Gene: XPO5 POLR1C

Linked Data

• ClinVar Variation Id: 3191247
• ClinVar RCV Id: RCV004485637
• dbSNP Id: rs1793460293
• gnomAD v3: 6-43524875-T-C
• gnomAD v4: 6-43524875-T-C
• MyVariant Identifiers: chr6:g.43492613T>C (hg19) ; chr6:g.43524875T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43524875T>C , CM000668.2:g.43524875T>C	GRCh38
NC_000006.11:g.43492613T>C , CM000668.1:g.43492613T>C	GRCh37
NC_000006.10:g.43600591T>C	NCBI36
NG_028283.3:g.20174T>C
NG_051658.1:g.56201A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265351.12:c.3268A>G (XPO5) MANE Select	ENSP00000265351.7:p.Met1090Val
ENST00000607635.2:c.922+3827T>C (POLR1C)	ENSP00000496683.1:n.922+3827T>C
ENST00000643341.1:c.922+3827T>C (POLR1C)	ENSP00000496018.1:n.922+3827T>C
ENST00000643799.1:c.*17+3558T>C (POLR1C)	ENSP00000494529.1:n.*17+3558T>C
ENST00000646433.1:c.922+3827T>C (POLR1C)	ENSP00000494368.1:n.922+3827T>C
ENST00000646700.1:c.922+3827T>C (POLR1C)	ENSP00000495521.1:n.922+3827T>C
ENST00000265351.11:c.3268A>G (XPO5)	ENSP00000265351.7:p.Met1090Val
ENST00000304004.7:c.922+3827T>C (POLR1C)	ENSP00000307212.3:n.922+3827T>C
ENST00000455285.2:c.612A>G (XPO5)
ENST00000455854.2:n.1751A>G (XPO5)
ENST00000486936.2:c.455A>G (XPO5)
ENST00000488195.6:n.665A>G (XPO5)
NM_020750.2:c.3268A>G (XPO5)	NP_065801.1:p.Met1090Val
XM_005249491.1:c.922+3827T>C (POLR1C)	XP_005249548.1:n.922+3827T>C
XM_011515000.1:c.922+3827T>C (POLR1C)	XP_011513302.1:n.922+3827T>C
NM_001318876.1:c.922+3827T>C (POLR1C)	NP_001305805.1:n.922+3827T>C
NM_001363658.1:c.922+3827T>C (POLR1C)	NP_001350587.1:n.922+3827T>C
NR_144392.1:n.3617A>G (XPO5)
NM_020750.3:c.3268A>G (XPO5) MANE Select	NP_065801.1:p.Met1090Val
NM_001363658.2:c.922+3827T>C (POLR1C)	NP_001350587.1:n.922+3827T>C
NM_001318876.2:c.922+3827T>C (POLR1C)	NP_001305805.1:n.922+3827T>C
NR_144392.2:n.3580A>G (XPO5)