Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523054T>C , CM000671.2:g.131523054T>C	GRCh38
NC_000009.11:g.134398441T>C , CM000671.1:g.134398441T>C	GRCh37
NC_000009.10:g.133388262T>C	NCBI36
NG_008896.1:g.25153T>C
NG_008896.2:g.25153T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1964T>C	ENSP00000343034.7:p.Leu655Pro
ENST00000404875.7:n.2666T>C
ENST00000423007.6:c.2183T>C	ENSP00000404119.2:p.Leu728Pro
ENST00000677295.2:c.*2470T>C	ENSP00000504346.2:n.*2470T>C
ENST00000678264.2:c.*2309T>C	ENSP00000503157.2:n.*2309T>C
ENST00000682070.1:n.2436T>C
ENST00000682639.1:c.123T>C
ENST00000682813.1:n.2523T>C
ENST00000683231.1:c.123T>C
ENST00000683392.1:n.4718T>C
ENST00000683712.1:n.2531T>C
ENST00000683900.1:n.4026T>C
ENST00000684062.1:n.2792T>C
ENST00000684399.1:c.123T>C
ENST00000684579.1:n.3972T>C
ENST00000341012.12:c.1964T>C	ENSP00000343034.7:p.Leu655Pro
ENST00000372220.5:c.995T>C	ENSP00000361294.5:p.Leu332Pro
ENST00000372228.9:c.2192T>C	ENSP00000361302.3:p.Leu731Pro
ENST00000402686.8:c.2126T>C MANE Select	ENSP00000385797.4:p.Leu709Pro
ENST00000676640.1:c.2126T>C	ENSP00000503281.1:p.Leu709Pro
ENST00000676803.1:c.1187T>C	ENSP00000503093.1:p.Leu396Pro
ENST00000676835.1:c.*1341T>C	ENSP00000502911.1:n.*1341T>C
ENST00000677029.1:c.1670T>C	ENSP00000502936.1:p.Leu557Pro
ENST00000677099.1:c.*1836T>C	ENSP00000504553.1:n.*1836T>C
ENST00000677216.1:c.1775T>C	ENSP00000503772.1:p.Leu592Pro
ENST00000677295.1:c.*1348T>C	ENSP00000504346.1:n.*1348T>C
ENST00000677444.1:c.2071T>C
ENST00000677586.1:n.1493T>C
ENST00000677626.1:c.1775T>C	ENSP00000503552.1:p.Leu592Pro
ENST00000677853.1:c.*1134T>C	ENSP00000503488.1:n.*1134T>C
ENST00000678264.1:c.*1503T>C	ENSP00000503157.1:n.*1503T>C
ENST00000678303.1:c.2036T>C	ENSP00000503696.1:p.Leu679Pro
ENST00000678366.1:c.*2375T>C	ENSP00000504353.1:n.*2375T>C
ENST00000678546.1:c.*2071T>C	ENSP00000503062.1:n.*2071T>C
ENST00000678548.1:c.*2265T>C	ENSP00000503934.1:n.*2265T>C
ENST00000678626.1:n.1962T>C
ENST00000678739.1:c.*2292T>C	ENSP00000503806.1:n.*2292T>C
ENST00000678833.1:c.*1878T>C	ENSP00000503893.1:n.*1878T>C
ENST00000679023.1:c.1964T>C	ENSP00000503718.1:p.Leu655Pro
ENST00000679076.1:c.1745T>C
ENST00000679111.1:c.*882T>C	ENSP00000504257.1:n.*882T>C
ENST00000679189.1:c.1775T>C	ENSP00000503356.1:p.Leu592Pro
ENST00000341012.11:c.1964T>C	ENSP00000343034.7:p.Leu655Pro
ENST00000372220.4:c.989T>C	ENSP00000361294.4:p.Leu330Pro
ENST00000372228.7:c.2192T>C	ENSP00000361302.3:p.Leu731Pro
ENST00000402686.7:c.2126T>C	ENSP00000385797.3:p.Leu709Pro
ENST00000404875.6:c.1775T>C	ENSP00000384531.2:p.Leu592Pro
ENST00000423007.5:c.2126T>C	ENSP00000404119.1:p.Leu709Pro
ENST00000485278.5:n.2676T>C
NM_001077365.1:c.2126T>C	NP_001070833.1:p.Leu709Pro
NM_001077366.1:c.1964T>C	NP_001070834.1:p.Leu655Pro
NM_001136113.1:c.2126T>C	NP_001129585.1:p.Leu709Pro
NM_001136114.1:c.1775T>C	NP_001129586.1:p.Leu592Pro
NM_007171.3:c.2192T>C	NP_009102.3:p.Leu731Pro
XM_005272156.1:c.2192T>C	XP_005272213.1:p.Leu731Pro
XM_005272158.1:c.2030T>C	XP_005272215.1:p.Leu677Pro
XM_005272159.1:c.1841T>C	XP_005272216.1:p.Leu614Pro
XM_005272162.1:c.995T>C	XP_005272219.1:p.Leu332Pro
XM_006716932.1:c.1841T>C	XP_006716995.1:p.Leu614Pro
XM_011518140.1:c.2045T>C	XP_011516442.1:p.Leu682Pro
XM_011518141.1:c.1979T>C	XP_011516443.1:p.Leu660Pro
XM_011518142.1:c.1883T>C	XP_011516444.1:p.Leu628Pro
XM_011518143.1:c.1877T>C	XP_011516445.1:p.Leu626Pro
XM_011518145.1:c.1736T>C	XP_011516447.1:p.Leu579Pro
XM_011518147.1:c.1064T>C	XP_011516449.1:p.Leu355Pro
XR_929703.1:n.2368T>C
NM_001353193.1:c.2192T>C	NP_001340122.1:p.Leu731Pro
NM_001353194.1:c.1964T>C	NP_001340123.1:p.Leu655Pro
NM_001353195.1:c.1775T>C	NP_001340124.1:p.Leu592Pro
NM_001353196.1:c.2036T>C	NP_001340125.1:p.Leu679Pro
NM_001353197.1:c.2030T>C	NP_001340126.1:p.Leu677Pro
NM_001353198.1:c.2030T>C	NP_001340127.1:p.Leu677Pro
NM_001353199.1:c.1841T>C	NP_001340128.1:p.Leu614Pro
NM_001353200.1:c.1670T>C	NP_001340129.1:p.Leu557Pro
NR_148391.1:n.2176T>C
NR_148392.1:n.2394T>C
NR_148393.1:n.2315T>C
NR_148394.1:n.2069T>C
NR_148395.1:n.2467T>C
NR_148396.1:n.2101T>C
NR_148397.1:n.2226T>C
NR_148398.1:n.2181T>C
NR_148399.1:n.2707T>C
NR_148400.1:n.2306T>C
XM_005272162.3:c.995T>C	XP_005272219.1:p.Leu332Pro
XM_006716932.2:c.1841T>C	XP_006716995.1:p.Leu614Pro
XM_011518140.2:c.2045T>C	XP_011516442.1:p.Leu682Pro
XM_011518141.2:c.1979T>C	XP_011516443.1:p.Leu660Pro
XM_011518142.2:c.1883T>C	XP_011516444.1:p.Leu628Pro
XM_011518143.2:c.1877T>C	XP_011516445.1:p.Leu626Pro
XM_011518145.2:c.1736T>C	XP_011516447.1:p.Leu579Pro
XM_017014205.2:c.995T>C	XP_016869694.1:p.Leu332Pro
XM_024447380.1:c.995T>C	XP_024303148.1:p.Leu332Pro
XM_024447381.1:c.1301T>C	XP_024303149.1:p.Leu434Pro
XM_024447382.1:c.995T>C	XP_024303150.1:p.Leu332Pro
XR_001746160.2:n.2296T>C
XR_001746162.2:n.2501T>C
XR_001746164.1:n.2218T>C
XR_001746166.2:n.2513T>C
NM_001077365.2:c.2126T>C MANE Select	NP_001070833.1:p.Leu709Pro
NM_001077366.2:c.1964T>C	NP_001070834.1:p.Leu655Pro
NM_001136113.2:c.2126T>C	NP_001129585.1:p.Leu709Pro
NM_001136114.2:c.1775T>C	NP_001129586.1:p.Leu592Pro
NM_001353193.2:c.2192T>C	NP_001340122.2:p.Leu731Pro
NM_001353194.2:c.1964T>C	NP_001340123.1:p.Leu655Pro
NM_001353195.2:c.1775T>C	NP_001340124.1:p.Leu592Pro
NM_001353196.2:c.2036T>C	NP_001340125.1:p.Leu679Pro
NM_001353197.2:c.2030T>C	NP_001340126.2:p.Leu677Pro
NM_001353198.2:c.2030T>C	NP_001340127.2:p.Leu677Pro
NM_001353199.2:c.1841T>C	NP_001340128.2:p.Leu614Pro
NM_001353200.2:c.1670T>C	NP_001340129.1:p.Leu557Pro
NM_001374689.1:c.2114T>C	NP_001361618.1:p.Leu705Pro
NM_001374690.1:c.1907T>C	NP_001361619.1:p.Leu636Pro
NM_001374691.1:c.1775T>C	NP_001361620.1:p.Leu592Pro
NM_001374692.1:c.1775T>C	NP_001361621.1:p.Leu592Pro
NM_001374693.1:c.1775T>C	NP_001361622.1:p.Leu592Pro
NM_001374695.1:c.1736T>C	NP_001361624.1:p.Leu579Pro
NM_007171.4:c.2192T>C	NP_009102.4:p.Leu731Pro
NR_148391.2:n.2160T>C
NR_148392.2:n.2378T>C
NR_148393.2:n.2299T>C
NR_148394.2:n.2053T>C
NR_148395.2:n.2451T>C
NR_148396.2:n.2085T>C
NR_148397.2:n.2210T>C
NR_148398.2:n.2165T>C
NR_148399.2:n.2691T>C
NR_148400.2:n.2290T>C

Linked Data

Genomic Alleles

Transcript Alleles