Canonical Allele Identifier: CA7450620

Gene: FAN1 MTMR10

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30925921C>A , CM000677.2:g.30925921C>A	GRCh38
NC_000015.9:g.31218124C>A , CM000677.1:g.31218124C>A	GRCh37
NC_000015.8:g.29005416C>A	NCBI36
NG_032946.1:g.27070C>A
NG_032946.2:g.27070C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.2470C>A (FAN1) MANE Select	ENSP00000354497.4:p.Arg824Ser
ENST00000562881.2:n.1438C>A (FAN1)
ENST00000568145.6:n.1346C>A (FAN1)
ENST00000602886.2:n.2647C>A (FAN1)
ENST00000654056.1:c.*314C>A (FAN1)	ENSP00000499726.1:n.*314C>A
ENST00000655421.1:n.3238C>A (FAN1)
ENST00000656307.1:n.2722C>A (FAN1)
ENST00000656435.1:c.2470C>A (FAN1)	ENSP00000499534.1:p.Arg824Ser
ENST00000657391.1:c.2470C>A (FAN1)	ENSP00000499703.1:p.Arg824Ser
ENST00000661974.1:c.1762C>A (FAN1)
ENST00000664070.1:c.*2010C>A (FAN1)	ENSP00000499478.1:n.*2010C>A
ENST00000664837.1:c.1180C>A (FAN1)	ENSP00000499780.1:p.Arg394Ser
ENST00000667837.1:n.2282C>A (FAN1)
ENST00000670074.1:c.*1212C>A (FAN1)	ENSP00000499252.1:n.*1212C>A
ENST00000670849.1:c.2470C>A (FAN1)	ENSP00000499638.1:p.Arg824Ser
ENST00000362065.8:c.2470C>A (FAN1)	ENSP00000354497.4:p.Arg824Ser
ENST00000565280.5:c.*1311C>A (FAN1)	ENSP00000455573.1:n.*1311C>A
ENST00000568145.5:n.422C>A (FAN1)
NM_014967.4:c.2470C>A (FAN1)	NP_055782.3:p.Arg824Ser
XM_005254232.3:c.2470C>A (FAN1)	XP_005254289.1:p.Arg824Ser
XM_005254234.3:c.2470C>A (FAN1)	XP_005254291.1:p.Arg824Ser
XM_005254235.3:c.2470C>A (FAN1)	XP_005254292.1:p.Arg824Ser
XM_005254236.2:c.2470C>A (FAN1)	XP_005254293.1:p.Arg824Ser
XM_011521370.1:c.1288C>A (FAN1)	XP_011519672.1:p.Arg430Ser
XM_011521371.1:c.1285C>A (FAN1)	XP_011519673.1:p.Arg429Ser
XM_011521737.1:c.1549-5998G>T (MTMR10)	XP_011520039.1:n.1549-5998G>T
XM_005254232.4:c.2470C>A (FAN1)	XP_005254289.1:p.Arg824Ser
XM_005254234.5:c.2470C>A (FAN1)	XP_005254291.1:p.Arg824Ser
XM_011521370.2:c.1288C>A (FAN1)	XP_011519672.1:p.Arg430Ser
XM_011521737.3:c.1549-5998G>T (MTMR10)	XP_011520039.1:n.1549-5998G>T
XM_017022012.2:c.799C>A (FAN1)	XP_016877501.1:p.Arg267Ser
XM_017022013.1:c.799C>A (FAN1)	XP_016877502.1:p.Arg267Ser
XM_024449874.1:c.1285C>A (FAN1)	XP_024305642.1:p.Arg429Ser
XR_001751149.1:n.2769C>A (FAN1)
XR_001751151.1:n.2765C>A (FAN1)
NM_014967.5:c.2470C>A (FAN1) MANE Select	NP_055782.3:p.Arg824Ser