Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31147259C>T , CM000685.2:g.31147259C>T	GRCh38
NC_000023.10:g.31165376C>T , CM000685.1:g.31165376C>T	GRCh37
NC_000023.9:g.31075297C>T	NCBI36
NG_012232.1:g.2197351G>A , LRG_199:g.2197351G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.5604+16G>A	ENSP00000350765.3:n.5604+16G>A
ENST00000680162.2:c.1488+16G>A	ENSP00000506634.2:n.1488+16G>A
ENST00000680768.2:c.1554+16G>A	ENSP00000506359.2:n.1554+16G>A
ENST00000681989.1:n.1595+16G>A
ENST00000682207.1:n.917+16G>A
ENST00000682238.1:c.3087+16G>A	ENSP00000508124.1:n.3087+16G>A
ENST00000682322.1:c.1488+16G>A	ENSP00000507690.1:n.1488+16G>A
ENST00000682600.1:c.1554+16G>A	ENSP00000507640.1:n.1554+16G>A
ENST00000682769.1:n.1389+16G>A
ENST00000683503.1:n.2612+16G>A
ENST00000683509.1:n.2275+16G>A
ENST00000683675.1:n.1896+16G>A
ENST00000683709.1:n.2276+16G>A
ENST00000683995.1:n.942+16G>A
ENST00000684072.1:n.1026+16G>A
ENST00000684103.1:n.1205+16G>A
ENST00000684130.1:c.3378+16G>A	ENSP00000508037.1:n.3378+16G>A
ENST00000684342.1:n.1841+16G>A
ENST00000684350.1:n.2612+16G>A
ENST00000343523.7:c.2652+16G>A	ENSP00000340057.4:n.2652+16G>A
ENST00000357033.9:c.10797+16G>A MANE Select	ENSP00000354923.3:n.10797+16G>A
ENST00000619831.5:c.6765+16G>A	ENSP00000479270.2:n.6765+16G>A
ENST00000620040.5:c.3335+59G>A	ENSP00000478150.2:n.3335+59G>A
ENST00000679437.1:c.459+16G>A	ENSP00000506629.1:n.459+16G>A
ENST00000679641.1:c.*469+16G>A	ENSP00000506135.1:n.*469+16G>A
ENST00000679706.1:c.424+16G>A
ENST00000679850.1:n.5808+16G>A
ENST00000680162.1:c.1470+16G>A	ENSP00000506634.1:n.1470+16G>A
ENST00000680355.1:c.1263+16G>A	ENSP00000506257.1:n.1263+16G>A
ENST00000680557.1:c.604-13065G>A	ENSP00000505164.1:n.604-13065G>A
ENST00000680701.1:n.572+16G>A
ENST00000680768.1:c.1497+16G>A	ENSP00000506359.1:n.1497+16G>A
ENST00000680961.1:c.*760+16G>A	ENSP00000506386.1:n.*760+16G>A
ENST00000681026.1:c.459+16G>A	ENSP00000506689.1:n.459+16G>A
ENST00000681153.1:c.1554+16G>A	ENSP00000505124.1:n.1554+16G>A
ENST00000343523.6:c.2610+16G>A	ENSP00000340057.3:n.2610+16G>A
ENST00000357033.8:c.10797+16G>A	ENSP00000354923.3:n.10797+16G>A
ENST00000358062.6:c.3846+16G>A	ENSP00000350765.2:n.3846+16G>A
ENST00000359836.5:c.3378+16G>A	ENSP00000352894.1:n.3378+16G>A
ENST00000361471.8:c.1554+16G>A	ENSP00000354464.4:n.1554+16G>A
ENST00000378677.6:c.10785+16G>A	ENSP00000367948.2:n.10785+16G>A
ENST00000378680.6:c.1263+16G>A	ENSP00000367951.2:n.1263+16G>A
ENST00000378702.8:c.1593+16G>A	ENSP00000367974.4:n.1593+16G>A
ENST00000378707.7:c.3417+16G>A	ENSP00000367979.3:n.3417+16G>A
ENST00000378723.7:c.1593+16G>A	ENSP00000367997.3:n.1593+16G>A
ENST00000474231.5:c.3417+16G>A	ENSP00000417123.1:n.3417+16G>A
ENST00000481143.2:n.114+22184G>A
ENST00000541735.5:c.3087+16G>A	ENSP00000444119.1:n.3087+16G>A
ENST00000619831.4:c.10782+16G>A	ENSP00000479270.1:n.10782+16G>A
ENST00000620040.4:c.10794+16G>A	ENSP00000478150.1:n.10794+16G>A
NM_000109.3:c.10773+16G>A	NP_000100.2:n.10773+16G>A
NM_004006.2:c.10797+16G>A , LRG_199t1:c.10797+16G>A	NP_003997.1:n.10797+16G>A
NM_004009.3:c.10785+16G>A	NP_004000.1:n.10785+16G>A
NM_004010.3:c.10428+16G>A	NP_004001.1:n.10428+16G>A
NM_004011.3:c.6774+16G>A	NP_004002.2:n.6774+16G>A
NM_004012.3:c.6765+16G>A	NP_004003.1:n.6765+16G>A
NM_004013.2:c.3417+16G>A	NP_004004.1:n.3417+16G>A
NM_004014.2:c.2610+16G>A	NP_004005.1:n.2610+16G>A
NM_004015.2:c.1593+16G>A	NP_004006.1:n.1593+16G>A
NM_004016.2:c.1593+16G>A	NP_004007.1:n.1593+16G>A
NM_004017.2:c.1554+16G>A	NP_004008.1:n.1554+16G>A
NM_004018.2:c.1554+16G>A	NP_004009.1:n.1554+16G>A
NM_004020.3:c.3087+16G>A	NP_004011.2:n.3087+16G>A
NM_004021.2:c.3417+16G>A	NP_004012.1:n.3417+16G>A
NM_004022.2:c.3378+16G>A	NP_004013.1:n.3378+16G>A
NM_004023.2:c.3087+16G>A	NP_004014.1:n.3087+16G>A
XM_006724468.2:c.10797+16G>A	XP_006724531.1:n.10797+16G>A
XM_006724469.2:c.10773+16G>A	XP_006724532.1:n.10773+16G>A
XM_006724470.2:c.10758+16G>A	XP_006724533.1:n.10758+16G>A
XM_006724471.2:c.10692+16G>A	XP_006724534.1:n.10692+16G>A
XM_006724472.2:c.10668+16G>A	XP_006724535.1:n.10668+16G>A
XM_006724473.2:c.10659+16G>A	XP_006724536.1:n.10659+16G>A
XM_006724474.2:c.10467+16G>A	XP_006724537.1:n.10467+16G>A
XM_006724475.2:c.10467+16G>A	XP_006724538.1:n.10467+16G>A
XM_011545467.1:c.10674+16G>A	XP_011543769.1:n.10674+16G>A
XM_006724469.3:c.10773+16G>A	XP_006724532.1:n.10773+16G>A
XM_006724470.3:c.10758+16G>A	XP_006724533.1:n.10758+16G>A
XM_006724474.3:c.10467+16G>A	XP_006724537.1:n.10467+16G>A
XM_017029328.1:c.10758+16G>A	XP_016884817.1:n.10758+16G>A
XM_017029331.1:c.4971+16G>A	XP_016884820.1:n.4971+16G>A
NM_000109.4:c.10773+16G>A	NP_000100.3:n.10773+16G>A
NM_004006.3:c.10797+16G>A MANE Select	NP_003997.2:n.10797+16G>A
NM_004011.4:c.6774+16G>A	NP_004002.3:n.6774+16G>A
NM_004012.4:c.6765+16G>A	NP_004003.2:n.6765+16G>A
NM_004015.3:c.1593+16G>A	NP_004006.1:n.1593+16G>A
NM_004016.3:c.1593+16G>A	NP_004007.1:n.1593+16G>A
NM_004017.3:c.1554+16G>A	NP_004008.1:n.1554+16G>A
NM_004018.3:c.1554+16G>A	NP_004009.1:n.1554+16G>A
NM_004021.3:c.3417+16G>A	NP_004012.2:n.3417+16G>A
NM_004023.3:c.3087+16G>A	NP_004014.2:n.3087+16G>A
NM_004013.3:c.3417+16G>A	NP_004004.2:n.3417+16G>A
NM_004014.3:c.2610+16G>A	NP_004005.2:n.2610+16G>A
NM_004020.4:c.3087+16G>A	NP_004011.3:n.3087+16G>A
NM_004022.3:c.3378+16G>A	NP_004013.2:n.3378+16G>A

Linked Data

Genomic Alleles

Transcript Alleles