Canonical Allele Identifier: CA7450785

Gene: FAN1 MTMR10

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30930560G>C , CM000677.2:g.30930560G>C	GRCh38
NC_000015.9:g.31222763G>C , CM000677.1:g.31222763G>C	GRCh37
NC_000015.8:g.29010055G>C	NCBI36
NG_032946.1:g.31709G>C
NG_032946.2:g.31709G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.2805G>C (FAN1) MANE Select	ENSP00000354497.4:p.Leu935=
ENST00000562881.2:n.4932G>C (FAN1)
ENST00000654056.1:c.*649G>C (FAN1)	ENSP00000499726.1:n.*649G>C
ENST00000655421.1:n.6186G>C (FAN1)
ENST00000656307.1:n.5670G>C (FAN1)
ENST00000656435.1:c.2805G>C (FAN1)	ENSP00000499534.1:p.Leu935=
ENST00000657391.1:c.2805G>C (FAN1)	ENSP00000499703.1:p.Leu935=
ENST00000661974.1:c.4710G>C (FAN1)
ENST00000664070.1:c.*2345G>C (FAN1)	ENSP00000499478.1:n.*2345G>C
ENST00000664837.1:c.1515G>C (FAN1)	ENSP00000499780.1:p.Leu505=
ENST00000667837.1:n.2617G>C (FAN1)
ENST00000670074.1:c.*1547G>C (FAN1)	ENSP00000499252.1:n.*1547G>C
ENST00000670849.1:c.2805G>C (FAN1)	ENSP00000499638.1:p.Leu935=
ENST00000362065.8:c.2805G>C (FAN1)	ENSP00000354497.4:p.Leu935=
ENST00000562881.1:n.446G>C (FAN1)
ENST00000565280.5:c.*1646G>C (FAN1)	ENSP00000455573.1:n.*1646G>C
ENST00000568145.5:n.757G>C (FAN1)
NM_014967.4:c.2805G>C (FAN1)	NP_055782.3:p.Leu935=
XM_005254232.3:c.2805G>C (FAN1)	XP_005254289.1:p.Leu935=
XM_005254234.3:c.2805G>C (FAN1)	XP_005254291.1:p.Leu935=
XM_005254235.3:c.2805G>C (FAN1)	XP_005254292.1:p.Leu935=
XM_011521370.1:c.1623G>C (FAN1)	XP_011519672.1:p.Leu541=
XM_011521371.1:c.1620G>C (FAN1)	XP_011519673.1:p.Leu540=
XM_011521736.1:c.1549-1750C>G (MTMR10)	XP_011520038.1:n.1549-1750C>G
XM_011521737.1:c.1549-10637C>G (MTMR10)	XP_011520039.1:n.1549-10637C>G
XM_005254232.4:c.2805G>C (FAN1)	XP_005254289.1:p.Leu935=
XM_005254234.5:c.2805G>C (FAN1)	XP_005254291.1:p.Leu935=
XM_011521370.2:c.1623G>C (FAN1)	XP_011519672.1:p.Leu541=
XM_011521737.3:c.1549-10637C>G (MTMR10)	XP_011520039.1:n.1549-10637C>G
XM_017022012.2:c.1134G>C (FAN1)	XP_016877501.1:p.Leu378=
XM_017022013.1:c.1134G>C (FAN1)	XP_016877502.1:p.Leu378=
XM_024449874.1:c.1620G>C (FAN1)	XP_024305642.1:p.Leu540=
XR_001751149.1:n.5049G>C (FAN1)
XR_001751151.1:n.5045G>C (FAN1)
NM_014967.5:c.2805G>C (FAN1) MANE Select	NP_055782.3:p.Leu935=