Canonical Allele Identifier: CA7450801

Gene: FAN1 MTMR10

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30930617T>C , CM000677.2:g.30930617T>C	GRCh38
NC_000015.9:g.31222820T>C , CM000677.1:g.31222820T>C	GRCh37
NC_000015.8:g.29010112T>C	NCBI36
NG_032946.1:g.31766T>C
NG_032946.2:g.31766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.2862T>C (FAN1) MANE Select	ENSP00000354497.4:p.Cys954=
ENST00000562881.2:n.4989T>C (FAN1)
ENST00000654056.1:c.*706T>C (FAN1)	ENSP00000499726.1:n.*706T>C
ENST00000655421.1:n.6243T>C (FAN1)
ENST00000656307.1:n.5727T>C (FAN1)
ENST00000656435.1:c.2862T>C (FAN1)	ENSP00000499534.1:p.Cys954=
ENST00000657391.1:c.2862T>C (FAN1)	ENSP00000499703.1:p.Cys954=
ENST00000661974.1:c.4767T>C (FAN1)
ENST00000664070.1:c.*2402T>C (FAN1)	ENSP00000499478.1:n.*2402T>C
ENST00000664837.1:c.1572T>C (FAN1)	ENSP00000499780.1:p.Cys524=
ENST00000667837.1:n.2674T>C (FAN1)
ENST00000670074.1:c.*1604T>C (FAN1)	ENSP00000499252.1:n.*1604T>C
ENST00000670849.1:c.2862T>C (FAN1)	ENSP00000499638.1:p.Cys954=
ENST00000362065.8:c.2862T>C (FAN1)	ENSP00000354497.4:p.Cys954=
ENST00000562881.1:n.503T>C (FAN1)
ENST00000565280.5:c.*1703T>C (FAN1)	ENSP00000455573.1:n.*1703T>C
ENST00000568145.5:n.814T>C (FAN1)
NM_014967.4:c.2862T>C (FAN1)	NP_055782.3:p.Cys954=
XM_005254232.3:c.2862T>C (FAN1)	XP_005254289.1:p.Cys954=
XM_005254234.3:c.2862T>C (FAN1)	XP_005254291.1:p.Cys954=
XM_005254235.3:c.2862T>C (FAN1)	XP_005254292.1:p.Cys954=
XM_011521370.1:c.1680T>C (FAN1)	XP_011519672.1:p.Cys560=
XM_011521371.1:c.1677T>C (FAN1)	XP_011519673.1:p.Cys559=
XM_011521736.1:c.1549-1807A>G (MTMR10)	XP_011520038.1:n.1549-1807A>G
XM_011521737.1:c.1549-10694A>G (MTMR10)	XP_011520039.1:n.1549-10694A>G
XM_005254232.4:c.2862T>C (FAN1)	XP_005254289.1:p.Cys954=
XM_005254234.5:c.2862T>C (FAN1)	XP_005254291.1:p.Cys954=
XM_011521370.2:c.1680T>C (FAN1)	XP_011519672.1:p.Cys560=
XM_011521737.3:c.1549-10694A>G (MTMR10)	XP_011520039.1:n.1549-10694A>G
XM_017022012.2:c.1191T>C (FAN1)	XP_016877501.1:p.Cys397=
XM_017022013.1:c.1191T>C (FAN1)	XP_016877502.1:p.Cys397=
XM_024449874.1:c.1677T>C (FAN1)	XP_024305642.1:p.Cys559=
XR_001751149.1:n.5106T>C (FAN1)
XR_001751151.1:n.5102T>C (FAN1)
NM_014967.5:c.2862T>C (FAN1) MANE Select	NP_055782.3:p.Cys954=