Canonical Allele Identifier: CA354800036

Gene: XRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142335460C>G , CM000665.2:g.142335460C>G	GRCh38
NC_000003.11:g.142054302C>G , CM000665.1:g.142054302C>G	GRCh37
NC_000003.10:g.143536992C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001282857.2:c.3927G>C MANE Select	NP_001269786.1:p.Met1309Ile
ENST00000392981.7:c.3927G>C MANE Select	ENSP00000376707.2:p.Met1309Ile
NM_001282857.1:c.3927G>C	NP_001269786.1:p.Met1309Ile
NM_019001.4:c.3927G>C	NP_061874.3:p.Met1309Ile
NM_019001.5:c.3927G>C	NP_061874.3:p.Met1309Ile
ENST00000264951.8:c.3927G>C	ENSP00000264951.4:p.Met1309Ile
ENST00000392981.6:c.3927G>C	ENSP00000376707.2:p.Met1309Ile
ENST00000489241.1:c.46G>C
ENST00000498077.6:c.2323G>C
XM_011512919.1:c.3927G>C	XP_011511221.1:p.Met1309Ile
XM_011512919.2:c.3927G>C	XP_011511221.1:p.Met1309Ile
XM_011512920.1:c.3927G>C	XP_011511222.1:p.Met1309Ile
XM_011512920.2:c.3927G>C	XP_011511222.1:p.Met1309Ile
XM_011512921.1:c.3510G>C	XP_011511223.1:p.Met1170Ile
XM_011512922.1:c.3297G>C	XP_011511224.1:p.Met1099Ile
XM_011512922.2:c.3297G>C	XP_011511224.1:p.Met1099Ile
XM_011512923.1:c.3927G>C	XP_011511225.1:p.Met1309Ile
XM_017006640.1:c.3927G>C	XP_016862129.1:p.Met1309Ile
XM_017006641.1:c.3927G>C	XP_016862130.1:p.Met1309Ile
XM_017006642.1:c.3927G>C	XP_016862131.1:p.Met1309Ile
XR_001740178.1:n.4045G>C