Canonical Allele Identifier: CA1777536243
Community Standard Title: NM_023110.3(FGFR1):c.1636A= (p.Asn546=)
Gene: FGFR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38417333T= , CM000670.2:g.38417333T= GRCh38
NC_000008.10:g.38274851T= , CM000670.1:g.38274851T= GRCh37
NC_000008.9:g.38394008T= NCBI36
NG_007729.1:g.56502A=

Transcript Alleles

HGVS Amino-acid Change
NM_023110.3:c.1636A= MANE Select NP_075598.2:p.Asn546=
ENST00000447712.7:c.1636A= MANE Select ENSP00000400162.2:p.Asn546=
NM_001174063.1:c.1630A= NP_001167534.1:p.Asn544=
NM_001174063.2:c.1630A= NP_001167534.1:p.Asn544=
NM_001174064.1:c.1606A= NP_001167535.1:p.Asn536=
NM_001174064.2:c.1606A= NP_001167535.1:p.Asn536=
NM_001174065.1:c.1630A= NP_001167536.1:p.Asn544=
NM_001174065.2:c.1630A= NP_001167536.1:p.Asn544=
NM_001174066.1:c.1369A= NP_001167537.1:p.Asn457=
NM_001174066.2:c.1369A= NP_001167537.1:p.Asn457=
NM_001174067.1:c.1729A= NP_001167538.1:p.Asn577=
NM_001174067.2:c.1729A= NP_001167538.1:p.Asn577=
NM_001354367.1:c.1630A= NP_001341296.1:p.Asn544=
NM_001354367.2:c.1630A= NP_001341296.1:p.Asn544=
NM_001354368.1:c.1357A= NP_001341297.1:p.Asn453=
NM_001354368.2:c.1357A= NP_001341297.1:p.Asn453=
NM_001354369.1:c.1624A= NP_001341298.1:p.Asn542=
NM_001354369.2:c.1624A= NP_001341298.1:p.Asn542=
NM_001354370.1:c.1363A= NP_001341299.1:p.Asn455=
NM_001354370.2:c.1363A= NP_001341299.1:p.Asn455=
NM_015850.3:c.1630A= NP_056934.2:p.Asn544=
NM_015850.4:c.1630A= NP_056934.2:p.Asn544=
NM_023105.2:c.1369A= NP_075593.1:p.Asn457=
NM_023105.3:c.1369A= NP_075593.1:p.Asn457=
NM_023106.2:c.1363A= NP_075594.1:p.Asn455=
NM_023106.3:c.1363A= NP_075594.1:p.Asn455=
NM_023110.2:c.1636A= NP_075598.2:p.Asn546=
ENST00000326324.10:c.1363A= ENSP00000327229.6:p.Asn455=
ENST00000335922.9:c.1606A= ENSP00000337247.5:p.Asn536=
ENST00000341462.8:c.*686A= ENSP00000340636.6:n.*686A=
ENST00000341462.9:c.1624A= ENSP00000340636.7:p.Asn542=
ENST00000356207.9:c.1369A= ENSP00000348537.5:p.Asn457=
ENST00000397091.9:c.1630A= ENSP00000380280.5:p.Asn544=
ENST00000397103.5:c.1369A= ENSP00000380292.1:p.Asn457=
ENST00000397108.8:c.1630A= ENSP00000380297.4:p.Asn544=
ENST00000397113.6:c.1630A= ENSP00000380302.2:p.Asn544=
ENST00000425967.7:c.1729A= ENSP00000393312.3:p.Asn577=
ENST00000425967.8:c.1624A= ENSP00000393312.4:p.Asn542=
ENST00000447712.6:c.1636A= ENSP00000400162.2:p.Asn546=
ENST00000466021.5:n.803A=
ENST00000487647.5:c.1513A= ENSP00000435254.1:n.1513A=
ENST00000524528.2:n.2529A=
ENST00000526570.5:n.3915A=
ENST00000527114.5:n.1158A=
ENST00000532791.5:c.1630A= ENSP00000432972.1:p.Asn544=
ENST00000533619.5:n.182A=
ENST00000619564.3:c.*531A= ENSP00000484553.1:n.*531A=
ENST00000649678.1:c.1624A= ENSP00000497266.1:p.Asn542=
ENST00000674189.1:c.*1282A= ENSP00000501345.1:n.*1282A=
ENST00000674380.1:c.*1603A= ENSP00000501514.1:n.*1603A=
ENST00000674474.1:n.3130A=
ENST00000682398.1:n.402A=
ENST00000683765.1:c.1816A= ENSP00000507039.1:p.Asn606=
ENST00000683815.1:c.1624A= ENSP00000507997.1:p.Asn542=
ENST00000683948.1:n.2324A=
ENST00000684654.1:c.1357A= ENSP00000507205.1:p.Asn453=
ENST00000703405.1:c.1636A= ENSP00000515291.1:p.Asn546=
XM_006716303.2:c.1636A= XP_006716366.1:p.Asn546=
XM_006716303.3:c.1636A= XP_006716366.1:p.Asn546=
XM_006716304.1:c.1636A= XP_006716367.1:p.Asn546=
XM_006716305.2:c.1636A= XP_006716368.1:p.Asn546=
XM_006716306.2:c.1630A= XP_006716369.1:p.Asn544=
XM_006716307.1:c.1630A= XP_006716370.1:p.Asn544=
XM_006716309.2:c.1612A= XP_006716372.1:p.Asn538=
XM_006716310.2:c.1369A= XP_006716373.1:p.Asn457=
XM_006716310.3:c.1369A= XP_006716373.1:p.Asn457=
XM_006716311.1:c.1369A= XP_006716374.1:p.Asn457=
XM_006716312.1:c.1369A= XP_006716375.1:p.Asn457=
XM_006716312.2:c.1369A= XP_006716375.1:p.Asn457=
XM_006716313.2:c.1363A= XP_006716376.1:p.Asn455=
XM_006716314.1:c.1363A= XP_006716377.1:p.Asn455=
XM_006716314.2:c.1363A= XP_006716377.1:p.Asn455=
XM_011544443.1:c.1735A= XP_011542745.1:p.Asn579=
XM_011544443.2:c.1735A= XP_011542745.1:p.Asn579=
XM_011544444.1:c.1729A= XP_011542746.1:p.Asn577=
XM_011544445.1:c.1729A= XP_011542747.1:p.Asn577=
XM_011544445.2:c.1729A= XP_011542747.1:p.Asn577=
XM_011544446.1:c.1735A= XP_011542748.1:p.Asn579=
XM_011544446.2:c.1735A= XP_011542748.1:p.Asn579=
XM_011544447.1:c.1729A= XP_011542749.1:p.Asn577=
XM_011544447.2:c.1729A= XP_011542749.1:p.Asn577=
XM_011544448.1:c.1468A= XP_011542750.1:p.Asn490=
XM_011544449.1:c.1462A= XP_011542751.1:p.Asn488=
XM_011544450.1:c.1462A= XP_011542752.1:p.Asn488=
XM_011544450.2:c.1462A= XP_011542752.1:p.Asn488=
XM_011544451.1:c.1345A= XP_011542753.1:p.Asn449=
XM_017013219.1:c.1723A= XP_016868708.1:p.Asn575=
XM_017013220.1:c.1723A= XP_016868709.1:p.Asn575=
XM_017013221.1:c.1636A= XP_016868710.1:p.Asn546=
XM_017013222.2:c.1630A= XP_016868711.1:p.Asn544=
XM_017013224.2:c.1624A= XP_016868713.1:p.Asn542=
XM_017013225.2:c.1624A= XP_016868714.1:p.Asn542=
XM_017013226.1:c.1462A= XP_016868715.1:p.Asn488=
XM_017013227.1:c.1456A= XP_016868716.1:p.Asn486=
XM_017013229.2:c.664A= XP_016868718.1:p.Asn222=
XM_017013230.1:c.664A= XP_016868719.1:p.Asn222=
XM_024447097.1:c.1612A= XP_024302865.1:p.Asn538=
XR_001745495.1:n.1884A=
XR_001745496.1:n.1884A=