Canonical Allele Identifier: CA267472200
Community Standard Title: NM_014967.5(FAN1):c.2120G>A (p.Trp707Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30922302G>A , CM000677.2:g.30922302G>A GRCh38
NC_000015.9:g.31214505G>A , CM000677.1:g.31214505G>A GRCh37
NC_000015.8:g.29001797G>A NCBI36
NG_032946.1:g.23451G>A
NG_032946.2:g.23451G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014967.5:c.2120G>A (FAN1) MANE Select NP_055782.3:p.Trp707Ter
ENST00000362065.9:c.2120G>A (FAN1) MANE Select ENSP00000354497.4:p.Trp707Ter
NM_014967.4:c.2120G>A (FAN1) NP_055782.3:p.Trp707Ter
ENST00000362065.8:c.2120G>A (FAN1) ENSP00000354497.4:p.Trp707Ter
ENST00000565280.5:c.*961G>A (FAN1) ENSP00000455573.1:n.*961G>A
ENST00000568145.5:n.41G>A (FAN1)
ENST00000568145.6:n.996G>A (FAN1)
ENST00000602886.2:n.2297G>A (FAN1)
ENST00000654056.1:c.830G>A (FAN1) ENSP00000499726.1:p.Trp277Ter
ENST00000655421.1:n.2391G>A (FAN1)
ENST00000656109.1:n.1065G>A (FAN1)
ENST00000656307.1:n.2372G>A (FAN1)
ENST00000656435.1:c.2120G>A (FAN1) ENSP00000499534.1:p.Trp707Ter
ENST00000657391.1:c.2120G>A (FAN1) ENSP00000499703.1:p.Trp707Ter
ENST00000661974.1:c.1412G>A (FAN1)
ENST00000664070.1:c.*1660G>A (FAN1) ENSP00000499478.1:n.*1660G>A
ENST00000664837.1:c.830G>A (FAN1) ENSP00000499780.1:p.Trp277Ter
ENST00000666852.1:n.2372G>A (FAN1)
ENST00000667837.1:n.1932G>A (FAN1)
ENST00000670074.1:c.*862G>A (FAN1) ENSP00000499252.1:n.*862G>A
ENST00000670849.1:c.2120G>A (FAN1) ENSP00000499638.1:p.Trp707Ter
XM_005254232.3:c.2120G>A (FAN1) XP_005254289.1:p.Trp707Ter
XM_005254232.4:c.2120G>A (FAN1) XP_005254289.1:p.Trp707Ter
XM_005254234.3:c.2120G>A (FAN1) XP_005254291.1:p.Trp707Ter
XM_005254234.5:c.2120G>A (FAN1) XP_005254291.1:p.Trp707Ter
XM_005254235.3:c.2120G>A (FAN1) XP_005254292.1:p.Trp707Ter
XM_005254236.2:c.2120G>A (FAN1) XP_005254293.1:p.Trp707Ter
XM_011521370.1:c.938G>A (FAN1) XP_011519672.1:p.Trp313Ter
XM_011521370.2:c.938G>A (FAN1) XP_011519672.1:p.Trp313Ter
XM_011521371.1:c.935G>A (FAN1) XP_011519673.1:p.Trp312Ter
XM_011521737.1:c.1549-2379C>T (MTMR10) XP_011520039.1:n.1549-2379C>T
XM_011521737.3:c.1549-2379C>T (MTMR10) XP_011520039.1:n.1549-2379C>T
XM_017022012.2:c.449G>A (FAN1) XP_016877501.1:p.Trp150Ter
XM_017022013.1:c.449G>A (FAN1) XP_016877502.1:p.Trp150Ter
XM_024449874.1:c.935G>A (FAN1) XP_024305642.1:p.Trp312Ter
XR_001751149.1:n.2419G>A (FAN1)
XR_001751151.1:n.2415G>A (FAN1)