Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522964T>C , CM000671.2:g.131522964T>C	GRCh38
NC_000009.11:g.134398351T>C , CM000671.1:g.134398351T>C	GRCh37
NC_000009.10:g.133388172T>C	NCBI36
NG_008896.1:g.25063T>C
NG_008896.2:g.25063T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1874T>C	ENSP00000343034.7:p.Leu625Pro
ENST00000404875.7:n.2576T>C
ENST00000423007.6:c.2093T>C	ENSP00000404119.2:p.Leu698Pro
ENST00000677295.2:c.*2380T>C	ENSP00000504346.2:n.*2380T>C
ENST00000678264.2:c.*2219T>C	ENSP00000503157.2:n.*2219T>C
ENST00000682070.1:n.2346T>C
ENST00000682639.1:c.33T>C
ENST00000682813.1:n.2433T>C
ENST00000683231.1:c.33T>C
ENST00000683392.1:n.4628T>C
ENST00000683712.1:n.2441T>C
ENST00000683900.1:n.3936T>C
ENST00000684062.1:n.2702T>C
ENST00000684399.1:c.33T>C
ENST00000684579.1:n.3882T>C
ENST00000341012.12:c.1874T>C	ENSP00000343034.7:p.Leu625Pro
ENST00000372220.5:c.905T>C	ENSP00000361294.5:p.Leu302Pro
ENST00000372228.9:c.2102T>C	ENSP00000361302.3:p.Leu701Pro
ENST00000402686.8:c.2036T>C MANE Select	ENSP00000385797.4:p.Leu679Pro
ENST00000676640.1:c.2036T>C	ENSP00000503281.1:p.Leu679Pro
ENST00000676803.1:c.1097T>C	ENSP00000503093.1:p.Leu366Pro
ENST00000676835.1:c.*1251T>C	ENSP00000502911.1:n.*1251T>C
ENST00000677029.1:c.1580T>C	ENSP00000502936.1:p.Leu527Pro
ENST00000677099.1:c.*1746T>C	ENSP00000504553.1:n.*1746T>C
ENST00000677216.1:c.1685T>C	ENSP00000503772.1:p.Leu562Pro
ENST00000677221.1:n.1061T>C
ENST00000677295.1:c.*1258T>C	ENSP00000504346.1:n.*1258T>C
ENST00000677444.1:c.1981T>C
ENST00000677586.1:n.1403T>C
ENST00000677626.1:c.1685T>C	ENSP00000503552.1:p.Leu562Pro
ENST00000677853.1:c.*1044T>C	ENSP00000503488.1:n.*1044T>C
ENST00000678264.1:c.*1413T>C	ENSP00000503157.1:n.*1413T>C
ENST00000678303.1:c.1946T>C	ENSP00000503696.1:p.Leu649Pro
ENST00000678366.1:c.*2285T>C	ENSP00000504353.1:n.*2285T>C
ENST00000678546.1:c.*1981T>C	ENSP00000503062.1:n.*1981T>C
ENST00000678548.1:c.*2175T>C	ENSP00000503934.1:n.*2175T>C
ENST00000678626.1:n.1872T>C
ENST00000678739.1:c.*2202T>C	ENSP00000503806.1:n.*2202T>C
ENST00000678833.1:c.*1788T>C	ENSP00000503893.1:n.*1788T>C
ENST00000679023.1:c.1874T>C	ENSP00000503718.1:p.Leu625Pro
ENST00000679076.1:c.1655T>C
ENST00000679111.1:c.*792T>C	ENSP00000504257.1:n.*792T>C
ENST00000679189.1:c.1685T>C	ENSP00000503356.1:p.Leu562Pro
ENST00000341012.11:c.1874T>C	ENSP00000343034.7:p.Leu625Pro
ENST00000372220.4:c.899T>C	ENSP00000361294.4:p.Leu300Pro
ENST00000372228.7:c.2102T>C	ENSP00000361302.3:p.Leu701Pro
ENST00000402686.7:c.2036T>C	ENSP00000385797.3:p.Leu679Pro
ENST00000404875.6:c.1685T>C	ENSP00000384531.2:p.Leu562Pro
ENST00000423007.5:c.2036T>C	ENSP00000404119.1:p.Leu679Pro
ENST00000485278.5:n.2586T>C
NM_001077365.1:c.2036T>C	NP_001070833.1:p.Leu679Pro
NM_001077366.1:c.1874T>C	NP_001070834.1:p.Leu625Pro
NM_001136113.1:c.2036T>C	NP_001129585.1:p.Leu679Pro
NM_001136114.1:c.1685T>C	NP_001129586.1:p.Leu562Pro
NM_007171.3:c.2102T>C	NP_009102.3:p.Leu701Pro
XM_005272156.1:c.2102T>C	XP_005272213.1:p.Leu701Pro
XM_005272158.1:c.1940T>C	XP_005272215.1:p.Leu647Pro
XM_005272159.1:c.1751T>C	XP_005272216.1:p.Leu584Pro
XM_005272162.1:c.905T>C	XP_005272219.1:p.Leu302Pro
XM_006716932.1:c.1751T>C	XP_006716995.1:p.Leu584Pro
XM_011518140.1:c.1955T>C	XP_011516442.1:p.Leu652Pro
XM_011518141.1:c.1889T>C	XP_011516443.1:p.Leu630Pro
XM_011518142.1:c.1793T>C	XP_011516444.1:p.Leu598Pro
XM_011518143.1:c.1787T>C	XP_011516445.1:p.Leu596Pro
XM_011518145.1:c.1646T>C	XP_011516447.1:p.Leu549Pro
XM_011518147.1:c.974T>C	XP_011516449.1:p.Leu325Pro
XR_929703.1:n.2278T>C
NM_001353193.1:c.2102T>C	NP_001340122.1:p.Leu701Pro
NM_001353194.1:c.1874T>C	NP_001340123.1:p.Leu625Pro
NM_001353195.1:c.1685T>C	NP_001340124.1:p.Leu562Pro
NM_001353196.1:c.1946T>C	NP_001340125.1:p.Leu649Pro
NM_001353197.1:c.1940T>C	NP_001340126.1:p.Leu647Pro
NM_001353198.1:c.1940T>C	NP_001340127.1:p.Leu647Pro
NM_001353199.1:c.1751T>C	NP_001340128.1:p.Leu584Pro
NM_001353200.1:c.1580T>C	NP_001340129.1:p.Leu527Pro
NR_148391.1:n.2086T>C
NR_148392.1:n.2304T>C
NR_148393.1:n.2225T>C
NR_148394.1:n.1979T>C
NR_148395.1:n.2377T>C
NR_148396.1:n.2011T>C
NR_148397.1:n.2136T>C
NR_148398.1:n.2091T>C
NR_148399.1:n.2617T>C
NR_148400.1:n.2216T>C
XM_005272162.3:c.905T>C	XP_005272219.1:p.Leu302Pro
XM_006716932.2:c.1751T>C	XP_006716995.1:p.Leu584Pro
XM_011518140.2:c.1955T>C	XP_011516442.1:p.Leu652Pro
XM_011518141.2:c.1889T>C	XP_011516443.1:p.Leu630Pro
XM_011518142.2:c.1793T>C	XP_011516444.1:p.Leu598Pro
XM_011518143.2:c.1787T>C	XP_011516445.1:p.Leu596Pro
XM_011518145.2:c.1646T>C	XP_011516447.1:p.Leu549Pro
XM_017014205.2:c.905T>C	XP_016869694.1:p.Leu302Pro
XM_024447380.1:c.905T>C	XP_024303148.1:p.Leu302Pro
XM_024447381.1:c.1211T>C	XP_024303149.1:p.Leu404Pro
XM_024447382.1:c.905T>C	XP_024303150.1:p.Leu302Pro
XR_001746160.2:n.2206T>C
XR_001746162.2:n.2411T>C
XR_001746164.1:n.2128T>C
XR_001746166.2:n.2423T>C
NM_001077365.2:c.2036T>C MANE Select	NP_001070833.1:p.Leu679Pro
NM_001077366.2:c.1874T>C	NP_001070834.1:p.Leu625Pro
NM_001136113.2:c.2036T>C	NP_001129585.1:p.Leu679Pro
NM_001136114.2:c.1685T>C	NP_001129586.1:p.Leu562Pro
NM_001353193.2:c.2102T>C	NP_001340122.2:p.Leu701Pro
NM_001353194.2:c.1874T>C	NP_001340123.1:p.Leu625Pro
NM_001353195.2:c.1685T>C	NP_001340124.1:p.Leu562Pro
NM_001353196.2:c.1946T>C	NP_001340125.1:p.Leu649Pro
NM_001353197.2:c.1940T>C	NP_001340126.2:p.Leu647Pro
NM_001353198.2:c.1940T>C	NP_001340127.2:p.Leu647Pro
NM_001353199.2:c.1751T>C	NP_001340128.2:p.Leu584Pro
NM_001353200.2:c.1580T>C	NP_001340129.1:p.Leu527Pro
NM_001374689.1:c.2024T>C	NP_001361618.1:p.Leu675Pro
NM_001374690.1:c.1817T>C	NP_001361619.1:p.Leu606Pro
NM_001374691.1:c.1685T>C	NP_001361620.1:p.Leu562Pro
NM_001374692.1:c.1685T>C	NP_001361621.1:p.Leu562Pro
NM_001374693.1:c.1685T>C	NP_001361622.1:p.Leu562Pro
NM_001374695.1:c.1646T>C	NP_001361624.1:p.Leu549Pro
NM_007171.4:c.2102T>C	NP_009102.4:p.Leu701Pro
NR_148391.2:n.2070T>C
NR_148392.2:n.2288T>C
NR_148393.2:n.2209T>C
NR_148394.2:n.1963T>C
NR_148395.2:n.2361T>C
NR_148396.2:n.1995T>C
NR_148397.2:n.2120T>C
NR_148398.2:n.2075T>C
NR_148399.2:n.2601T>C
NR_148400.2:n.2200T>C

Linked Data

Genomic Alleles

Transcript Alleles