Canonical Allele Identifier: CA267476820

Gene: FAN1 MTMR10

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30929624T>C , CM000677.2:g.30929624T>C	GRCh38
NC_000015.9:g.31221827T>C , CM000677.1:g.31221827T>C	GRCh37
NC_000015.8:g.29009119T>C	NCBI36
NG_032946.1:g.30773T>C
NG_032946.2:g.30773T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014967.5:c.2787+227T>C (FAN1) MANE Select	NP_055782.3:n.2787+227T>C
ENST00000362065.9:c.2787+227T>C (FAN1) MANE Select	ENSP00000354497.4:n.2787+227T>C
NM_014967.4:c.2787+227T>C (FAN1)	NP_055782.3:n.2787+227T>C
ENST00000362065.8:c.2787+227T>C (FAN1)	ENSP00000354497.4:n.2787+227T>C
ENST00000562881.1:n.428+227T>C (FAN1)
ENST00000562881.2:n.4914+227T>C (FAN1)
ENST00000565280.5:c.*1628+227T>C (FAN1)	ENSP00000455573.1:n.*1628+227T>C
ENST00000568145.5:n.739+227T>C (FAN1)
ENST00000654056.1:c.*631+227T>C (FAN1)	ENSP00000499726.1:n.*631+227T>C
ENST00000655421.1:n.6168+227T>C (FAN1)
ENST00000656307.1:n.5652+227T>C (FAN1)
ENST00000656435.1:c.2787+227T>C (FAN1)	ENSP00000499534.1:n.2787+227T>C
ENST00000657391.1:c.2787+227T>C (FAN1)	ENSP00000499703.1:n.2787+227T>C
ENST00000661974.1:c.4692+227T>C (FAN1)
ENST00000664070.1:c.*2327+227T>C (FAN1)	ENSP00000499478.1:n.*2327+227T>C
ENST00000664837.1:c.1497+227T>C (FAN1)	ENSP00000499780.1:n.1497+227T>C
ENST00000667837.1:n.2599+227T>C (FAN1)
ENST00000670074.1:c.*1529+227T>C (FAN1)	ENSP00000499252.1:n.*1529+227T>C
ENST00000670849.1:c.2787+227T>C (FAN1)	ENSP00000499638.1:n.2787+227T>C
XM_005254232.3:c.2787+227T>C (FAN1)	XP_005254289.1:n.2787+227T>C
XM_005254232.4:c.2787+227T>C (FAN1)	XP_005254289.1:n.2787+227T>C
XM_005254234.3:c.2787+227T>C (FAN1)	XP_005254291.1:n.2787+227T>C
XM_005254234.5:c.2787+227T>C (FAN1)	XP_005254291.1:n.2787+227T>C
XM_005254235.3:c.2787+227T>C (FAN1)	XP_005254292.1:n.2787+227T>C
XM_011521370.1:c.1605+227T>C (FAN1)	XP_011519672.1:n.1605+227T>C
XM_011521370.2:c.1605+227T>C (FAN1)	XP_011519672.1:n.1605+227T>C
XM_011521371.1:c.1602+227T>C (FAN1)	XP_011519673.1:n.1602+227T>C
XM_011521736.1:c.1549-814A>G (MTMR10)	XP_011520038.1:n.1549-814A>G
XM_011521737.1:c.1549-9701A>G (MTMR10)	XP_011520039.1:n.1549-9701A>G
XM_011521737.3:c.1549-9701A>G (MTMR10)	XP_011520039.1:n.1549-9701A>G
XM_017022012.2:c.1116+227T>C (FAN1)	XP_016877501.1:n.1116+227T>C
XM_017022013.1:c.1116+227T>C (FAN1)	XP_016877502.1:n.1116+227T>C
XM_024449874.1:c.1602+227T>C (FAN1)	XP_024305642.1:n.1602+227T>C
XR_001751149.1:n.5031+227T>C (FAN1)
XR_001751151.1:n.5027+227T>C (FAN1)