Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17430954G>T , CM000673.2:g.17430954G>T	GRCh38
NC_000011.9:g.17452501G>T , CM000673.1:g.17452501G>T	GRCh37
NC_000011.8:g.17409077G>T	NCBI36
NG_008867.1:g.50949C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.1314C>A
ENST00000526002.2:n.1704C>A
ENST00000528202.6:n.1816C>A
ENST00000642611.2:n.1743C>A
ENST00000682051.1:n.1690C>A
ENST00000682110.1:n.1743C>A
ENST00000682140.1:c.1674C>A	ENSP00000507829.1:p.Phe558Leu
ENST00000682185.1:n.2982C>A
ENST00000682204.1:c.1668+1250C>A	ENSP00000507094.1:n.1668+1250C>A
ENST00000682215.1:n.1743C>A
ENST00000682288.1:c.*73C>A	ENSP00000507506.1:n.*73C>A
ENST00000682442.1:n.1864C>A
ENST00000682528.1:n.1743C>A
ENST00000682673.1:n.1690C>A
ENST00000682805.1:n.1743C>A
ENST00000682965.1:c.1674C>A	ENSP00000508229.1:p.Phe558Leu
ENST00000683093.1:n.1845C>A
ENST00000683136.1:c.1674C>A	ENSP00000507768.1:p.Phe558Leu
ENST00000683153.1:n.1743C>A
ENST00000683253.1:n.2759C>A
ENST00000683365.1:n.1845C>A
ENST00000683377.1:n.1743C>A
ENST00000683456.1:c.1674C>A	ENSP00000508318.1:p.Phe558Leu
ENST00000683522.1:n.1743C>A
ENST00000683531.1:n.1746C>A
ENST00000683562.1:c.1677C>A	ENSP00000508265.1:p.Phe559Leu
ENST00000683693.1:n.1743C>A
ENST00000683725.1:c.1677C>A	ENSP00000507496.1:p.Phe559Leu
ENST00000684010.1:n.1743C>A
ENST00000684157.1:n.1743C>A
ENST00000684253.1:n.1789+1250C>A
ENST00000684288.1:c.1677C>A	ENSP00000507143.1:p.Phe559Leu
ENST00000684313.1:n.1723+11766C>A
ENST00000684332.1:n.1816C>A
ENST00000684371.1:n.1690C>A
ENST00000684404.1:n.1743C>A
ENST00000684442.1:n.1743C>A
ENST00000684555.1:c.1671+1250C>A	ENSP00000507705.1:n.1671+1250C>A
ENST00000684571.1:c.1518C>A	ENSP00000506935.1:p.Phe506Leu
ENST00000684593.1:c.*1382C>A	ENSP00000507005.1:n.*1382C>A
ENST00000684711.1:c.*73C>A	ENSP00000506841.1:n.*73C>A
ENST00000302539.9:c.1677C>A	ENSP00000303960.4:p.Phe559Leu
ENST00000389817.8:c.1677C>A MANE Select	ENSP00000374467.4:p.Phe559Leu
ENST00000532728.6:c.1398+1250C>A
ENST00000635881.1:n.1705C>A
ENST00000642271.1:c.1674C>A	ENSP00000493749.1:p.Phe558Leu
ENST00000642611.1:n.1628C>A
ENST00000642902.1:c.1652+1250C>A
ENST00000643260.1:c.1674C>A	ENSP00000494450.1:p.Phe558Leu
ENST00000643562.1:c.1677C>A	ENSP00000496124.1:p.Phe559Leu
ENST00000644447.1:c.30C>A	ENSP00000496282.1:p.Phe10Leu
ENST00000644472.1:c.*38C>A	ENSP00000495378.1:n.*38C>A
ENST00000644484.1:c.1668+1250C>A	ENSP00000493558.1:n.1668+1250C>A
ENST00000644542.1:c.*1379C>A	ENSP00000495532.1:n.*1379C>A
ENST00000644649.1:c.847C>A
ENST00000644675.1:c.1674C>A	ENSP00000494567.1:p.Phe558Leu
ENST00000644757.1:c.*87+1250C>A	ENSP00000495085.1:n.*87+1250C>A
ENST00000644772.1:c.1677C>A	ENSP00000494321.1:p.Phe559Leu
ENST00000645076.1:c.959C>A
ENST00000645744.1:c.*38C>A	ENSP00000494564.1:n.*38C>A
ENST00000645760.1:c.1952C>A
ENST00000645884.1:c.1674C>A	ENSP00000495516.1:p.Phe558Leu
ENST00000646003.1:c.1668+1250C>A	ENSP00000495259.1:n.1668+1250C>A
ENST00000646207.1:c.*38C>A	ENSP00000495025.1:n.*38C>A
ENST00000646276.1:c.*87+1250C>A	ENSP00000496070.1:n.*87+1250C>A
ENST00000646592.1:c.882-2284C>A
ENST00000646902.1:c.1674C>A	ENSP00000494101.1:p.Phe558Leu
ENST00000646993.1:c.*73C>A	ENSP00000493720.1:n.*73C>A
ENST00000647013.1:c.1648C>A	ENSP00000496741.1:n.1648C>A
ENST00000647015.1:c.1671+1250C>A	ENSP00000495389.1:n.1671+1250C>A
ENST00000647086.1:c.1674C>A	ENSP00000493677.1:p.Phe558Leu
ENST00000647158.1:c.1668+1250C>A	ENSP00000495744.1:n.1668+1250C>A
ENST00000302539.8:c.1677C>A	ENSP00000303960.4:p.Phe559Leu
ENST00000389817.7:c.1677C>A	ENSP00000374467.3:p.Phe559Leu
ENST00000526002.1:n.466C>A
ENST00000527905.5:c.1677C>A	ENSP00000431653.1:p.Phe559Leu
ENST00000528202.5:n.192C>A
ENST00000532728.5:n.1708C>A
NM_000352.4:c.1677C>A	NP_000343.2:p.Phe559Leu
NM_001287174.1:c.1677C>A	NP_001274103.1:p.Phe559Leu
XM_011520331.1:c.1674C>A	XP_011518633.1:p.Phe558Leu
XM_011520332.1:c.1677C>A	XP_011518634.1:p.Phe559Leu
XM_011520333.1:c.174C>A	XP_011518635.1:p.Phe58Leu
XM_011520334.1:c.1677C>A	XP_011518636.1:p.Phe559Leu
XR_930890.1:n.1740C>A
XR_930891.1:n.1740C>A
XR_930892.1:n.1740C>A
XR_930893.1:n.1740C>A
NM_001351295.1:c.1677C>A	NP_001338224.1:p.Phe559Leu
NM_001351296.1:c.1674C>A	NP_001338225.1:p.Phe558Leu
NM_001351297.1:c.1674C>A	NP_001338226.1:p.Phe558Leu
NR_147094.1:n.1743C>A
XM_017018197.2:c.1677C>A	XP_016873686.1:p.Phe559Leu
XM_017018199.1:c.1674C>A	XP_016873688.1:p.Phe558Leu
XM_017018201.2:c.1677C>A	XP_016873690.1:p.Phe559Leu
XM_017018202.1:c.174C>A	XP_016873691.1:p.Phe58Leu
XM_017018204.1:c.-367C>A	XP_016873693.1:n.-367C>A
XM_024448668.1:c.42C>A	XP_024304436.1:p.Phe14Leu
XR_001747945.2:n.1749C>A
XR_001747946.2:n.1749C>A
XR_002957189.1:n.1749C>A
NM_000352.6:c.1677C>A MANE Select	NP_000343.2:p.Phe559Leu
NM_001287174.2:c.1677C>A	NP_001274103.1:p.Phe559Leu
NM_001351295.2:c.1677C>A	NP_001338224.1:p.Phe559Leu
NM_001351296.2:c.1674C>A	NP_001338225.1:p.Phe558Leu
NM_001351297.2:c.1674C>A	NP_001338226.1:p.Phe558Leu
NR_147094.2:n.1743C>A
NM_001287174.3:c.1677C>A	NP_001274103.1:p.Phe559Leu

Linked Data

Genomic Alleles

Transcript Alleles