Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521431A>C , CM000671.2:g.131521431A>C	GRCh38
NC_000009.11:g.134396818A>C , CM000671.1:g.134396818A>C	GRCh37
NC_000009.10:g.133386639A>C	NCBI36
NG_008896.1:g.23530A>C
NG_008896.2:g.23530A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1622A>C	ENSP00000343034.7:p.Tyr541Ser
ENST00000404875.7:n.2324A>C
ENST00000423007.6:c.1841A>C	ENSP00000404119.2:p.Tyr614Ser
ENST00000677295.2:c.*2128A>C	ENSP00000504346.2:n.*2128A>C
ENST00000678264.2:c.*1967A>C	ENSP00000503157.2:n.*1967A>C
ENST00000682070.1:n.2249A>C
ENST00000682813.1:n.2188A>C
ENST00000683392.1:n.4531A>C
ENST00000683712.1:n.2189A>C
ENST00000683900.1:n.3684A>C
ENST00000684062.1:n.2450A>C
ENST00000684579.1:n.3630A>C
ENST00000684679.1:n.1011A>C
ENST00000341012.12:c.1622A>C	ENSP00000343034.7:p.Tyr541Ser
ENST00000372220.5:c.653A>C	ENSP00000361294.5:p.Tyr218Ser
ENST00000372228.9:c.1850A>C	ENSP00000361302.3:p.Tyr617Ser
ENST00000402686.8:c.1784A>C MANE Select	ENSP00000385797.4:p.Tyr595Ser
ENST00000676640.1:c.1784A>C	ENSP00000503281.1:p.Tyr595Ser
ENST00000676803.1:c.845A>C	ENSP00000503093.1:p.Tyr282Ser
ENST00000676835.1:c.*999A>C	ENSP00000502911.1:n.*999A>C
ENST00000677029.1:c.1328A>C	ENSP00000502936.1:p.Tyr443Ser
ENST00000677099.1:c.*1494A>C	ENSP00000504553.1:n.*1494A>C
ENST00000677216.1:c.1433A>C	ENSP00000503772.1:p.Tyr478Ser
ENST00000677221.1:n.809A>C
ENST00000677295.1:c.*1161A>C	ENSP00000504346.1:n.*1161A>C
ENST00000677444.1:c.1729A>C
ENST00000677586.1:n.1151A>C
ENST00000677626.1:c.1433A>C	ENSP00000503552.1:p.Tyr478Ser
ENST00000677853.1:c.*792A>C	ENSP00000503488.1:n.*792A>C
ENST00000678202.1:n.943A>C
ENST00000678264.1:c.*1161A>C	ENSP00000503157.1:n.*1161A>C
ENST00000678303.1:c.1694A>C	ENSP00000503696.1:p.Tyr565Ser
ENST00000678366.1:c.*2033A>C	ENSP00000504353.1:n.*2033A>C
ENST00000678546.1:c.*1729A>C	ENSP00000503062.1:n.*1729A>C
ENST00000678548.1:c.*1856A>C	ENSP00000503934.1:n.*1856A>C
ENST00000678626.1:n.1620A>C
ENST00000678739.1:c.*2105A>C	ENSP00000503806.1:n.*2105A>C
ENST00000678833.1:c.*1536A>C	ENSP00000503893.1:n.*1536A>C
ENST00000679023.1:c.1622A>C	ENSP00000503718.1:p.Tyr541Ser
ENST00000679076.1:c.1403A>C
ENST00000679111.1:c.*540A>C	ENSP00000504257.1:n.*540A>C
ENST00000679189.1:c.1433A>C	ENSP00000503356.1:p.Tyr478Ser
ENST00000341012.11:c.1622A>C	ENSP00000343034.7:p.Tyr541Ser
ENST00000372220.4:c.647A>C	ENSP00000361294.4:p.Tyr216Ser
ENST00000372228.7:c.1850A>C	ENSP00000361302.3:p.Tyr617Ser
ENST00000402686.7:c.1784A>C	ENSP00000385797.3:p.Tyr595Ser
ENST00000404875.6:c.1433A>C	ENSP00000384531.2:p.Tyr478Ser
ENST00000423007.5:c.1784A>C	ENSP00000404119.1:p.Tyr595Ser
ENST00000485278.5:n.2334A>C
ENST00000494883.1:n.327A>C
NM_001077365.1:c.1784A>C	NP_001070833.1:p.Tyr595Ser
NM_001077366.1:c.1622A>C	NP_001070834.1:p.Tyr541Ser
NM_001136113.1:c.1784A>C	NP_001129585.1:p.Tyr595Ser
NM_001136114.1:c.1433A>C	NP_001129586.1:p.Tyr478Ser
NM_007171.3:c.1850A>C	NP_009102.3:p.Tyr617Ser
XM_005272156.1:c.1850A>C	XP_005272213.1:p.Tyr617Ser
XM_005272158.1:c.1688A>C	XP_005272215.1:p.Tyr563Ser
XM_005272159.1:c.1499A>C	XP_005272216.1:p.Tyr500Ser
XM_005272162.1:c.653A>C	XP_005272219.1:p.Tyr218Ser
XM_006716932.1:c.1499A>C	XP_006716995.1:p.Tyr500Ser
XM_011518140.1:c.1703A>C	XP_011516442.1:p.Tyr568Ser
XM_011518141.1:c.1637A>C	XP_011516443.1:p.Tyr546Ser
XM_011518142.1:c.1541A>C	XP_011516444.1:p.Tyr514Ser
XM_011518143.1:c.1535A>C	XP_011516445.1:p.Tyr512Ser
XM_011518145.1:c.1394A>C	XP_011516447.1:p.Tyr465Ser
XM_011518147.1:c.722A>C	XP_011516449.1:p.Tyr241Ser
XR_929703.1:n.2026A>C
NM_001353193.1:c.1850A>C	NP_001340122.1:p.Tyr617Ser
NM_001353194.1:c.1622A>C	NP_001340123.1:p.Tyr541Ser
NM_001353195.1:c.1433A>C	NP_001340124.1:p.Tyr478Ser
NM_001353196.1:c.1694A>C	NP_001340125.1:p.Tyr565Ser
NM_001353197.1:c.1688A>C	NP_001340126.1:p.Tyr563Ser
NM_001353198.1:c.1688A>C	NP_001340127.1:p.Tyr563Ser
NM_001353199.1:c.1499A>C	NP_001340128.1:p.Tyr500Ser
NM_001353200.1:c.1328A>C	NP_001340129.1:p.Tyr443Ser
NR_148391.1:n.1834A>C
NR_148392.1:n.2052A>C
NR_148393.1:n.1973A>C
NR_148394.1:n.1727A>C
NR_148395.1:n.2125A>C
NR_148396.1:n.1759A>C
NR_148397.1:n.1884A>C
NR_148398.1:n.1839A>C
NR_148399.1:n.2365A>C
NR_148400.1:n.1964A>C
XM_005272162.3:c.653A>C	XP_005272219.1:p.Tyr218Ser
XM_006716932.2:c.1499A>C	XP_006716995.1:p.Tyr500Ser
XM_011518140.2:c.1703A>C	XP_011516442.1:p.Tyr568Ser
XM_011518141.2:c.1637A>C	XP_011516443.1:p.Tyr546Ser
XM_011518142.2:c.1541A>C	XP_011516444.1:p.Tyr514Ser
XM_011518143.2:c.1535A>C	XP_011516445.1:p.Tyr512Ser
XM_011518145.2:c.1394A>C	XP_011516447.1:p.Tyr465Ser
XM_017014205.2:c.653A>C	XP_016869694.1:p.Tyr218Ser
XM_024447380.1:c.653A>C	XP_024303148.1:p.Tyr218Ser
XM_024447381.1:c.959A>C	XP_024303149.1:p.Tyr320Ser
XM_024447382.1:c.653A>C	XP_024303150.1:p.Tyr218Ser
XR_001746160.2:n.1954A>C
XR_001746162.2:n.2159A>C
XR_001746164.1:n.1876A>C
XR_001746166.2:n.2171A>C
NM_001077365.2:c.1784A>C MANE Select	NP_001070833.1:p.Tyr595Ser
NM_001077366.2:c.1622A>C	NP_001070834.1:p.Tyr541Ser
NM_001136113.2:c.1784A>C	NP_001129585.1:p.Tyr595Ser
NM_001136114.2:c.1433A>C	NP_001129586.1:p.Tyr478Ser
NM_001353193.2:c.1850A>C	NP_001340122.2:p.Tyr617Ser
NM_001353194.2:c.1622A>C	NP_001340123.1:p.Tyr541Ser
NM_001353195.2:c.1433A>C	NP_001340124.1:p.Tyr478Ser
NM_001353196.2:c.1694A>C	NP_001340125.1:p.Tyr565Ser
NM_001353197.2:c.1688A>C	NP_001340126.2:p.Tyr563Ser
NM_001353198.2:c.1688A>C	NP_001340127.2:p.Tyr563Ser
NM_001353199.2:c.1499A>C	NP_001340128.2:p.Tyr500Ser
NM_001353200.2:c.1328A>C	NP_001340129.1:p.Tyr443Ser
NM_001374689.1:c.1772A>C	NP_001361618.1:p.Tyr591Ser
NM_001374690.1:c.1565A>C	NP_001361619.1:p.Tyr522Ser
NM_001374691.1:c.1433A>C	NP_001361620.1:p.Tyr478Ser
NM_001374692.1:c.1433A>C	NP_001361621.1:p.Tyr478Ser
NM_001374693.1:c.1433A>C	NP_001361622.1:p.Tyr478Ser
NM_001374695.1:c.1394A>C	NP_001361624.1:p.Tyr465Ser
NM_007171.4:c.1850A>C	NP_009102.4:p.Tyr617Ser
NR_148391.2:n.1818A>C
NR_148392.2:n.2036A>C
NR_148393.2:n.1957A>C
NR_148394.2:n.1711A>C
NR_148395.2:n.2109A>C
NR_148396.2:n.1743A>C
NR_148397.2:n.1868A>C
NR_148398.2:n.1823A>C
NR_148399.2:n.2349A>C
NR_148400.2:n.1948A>C

Linked Data

Genomic Alleles

Transcript Alleles