Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45329406C>G , CM000663.2:g.45329406C>G	GRCh38
NC_000001.10:g.45795078C>G , CM000663.1:g.45795078C>G	GRCh37
NC_000001.9:g.45567665C>G	NCBI36
NG_008189.1:g.16065G>C , LRG_220:g.16065G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.1082G>C	ENSP00000410263.2:p.Cys361Ser
ENST00000435155.2:c.1499G>C	ENSP00000403655.2:p.Cys500Ser
ENST00000467459.6:c.*328G>C	ENSP00000435889.2:n.*328G>C
ENST00000483127.2:c.1484G>C	ENSP00000436469.2:p.Cys495Ser
ENST00000485271.6:c.*209G>C	ENSP00000431264.2:n.*209G>C
ENST00000529892.6:c.1319G>C	ENSP00000432528.2:p.Cys440Ser
ENST00000533178.6:c.*795G>C	ENSP00000436430.2:n.*795G>C
ENST00000672314.2:c.1466G>C	ENSP00000500828.2:p.Cys489Ser
ENST00000710952.2:c.1550G>C MANE Plus Clinical	ENSP00000518552.2:p.Cys517Ser
ENST00000672818.3:c.1541G>C	ENSP00000500891.1:p.Cys514Ser
ENST00000456914.7:c.1466G>C MANE Select	ENSP00000407590.2:p.Cys489Ser
ENST00000671898.1:c.*209G>C	ENSP00000499896.1:n.*209G>C
ENST00000672011.1:c.*795G>C	ENSP00000500418.1:n.*795G>C
ENST00000672818.2:c.1541G>C	ENSP00000500891.1:p.Cys514Ser
ENST00000354383.10:c.1469G>C	ENSP00000346354.6:p.Cys490Ser
ENST00000355498.6:c.1466G>C	ENSP00000347685.2:p.Cys489Ser
ENST00000372098.7:c.1541G>C	ENSP00000361170.3:p.Cys514Ser
ENST00000372104.5:c.1466G>C	ENSP00000361176.1:p.Cys489Ser
ENST00000372110.7:c.1511G>C	ENSP00000361182.3:p.Cys504Ser
ENST00000372115.7:c.1508G>C	ENSP00000361187.3:p.Cys503Ser
ENST00000448481.5:c.1499G>C	ENSP00000409718.1:p.Cys500Ser
ENST00000450313.5:c.1550G>C	ENSP00000408176.1:p.Cys517Ser
ENST00000456914.6:c.1466G>C	ENSP00000407590.2:p.Cys489Ser
ENST00000467459.5:c.883G>C	ENSP00000435889.1:n.883G>C
ENST00000475516.5:c.*1279G>C	ENSP00000433843.1:n.*1279G>C
ENST00000481571.5:c.*1279G>C	ENSP00000436597.1:n.*1279G>C
ENST00000482094.5:n.787G>C
ENST00000485271.5:c.343G>C
ENST00000488731.6:c.551G>C	ENSP00000432330.1:p.Cys184Ser
ENST00000528013.6:c.1508G>C	ENSP00000433130.2:p.Cys503Ser
ENST00000529892.5:c.541G>C
ENST00000529984.5:c.551G>C	ENSP00000437093.1:p.Cys184Ser
ENST00000531105.5:c.147G>C	ENSP00000431292.1:p.Val49=
ENST00000533178.5:c.1095G>C	ENSP00000436430.1:n.1095G>C
NM_001048171.1:c.1508G>C	NP_001041636.1:p.Cys503Ser
NM_001048172.1:c.1469G>C	NP_001041637.1:p.Cys490Ser
NM_001048173.1:c.1466G>C	NP_001041638.1:p.Cys489Ser
NM_001048174.1:c.1466G>C	NP_001041639.1:p.Cys489Ser
NM_001128425.1:c.1550G>C , LRG_220t1:c.1550G>C	NP_001121897.1:p.Cys517Ser
NM_001293190.1:c.1511G>C	NP_001280119.1:p.Cys504Ser
NM_001293191.1:c.1499G>C	NP_001280120.1:p.Cys500Ser
NM_001293192.1:c.1190G>C	NP_001280121.1:p.Cys397Ser
NM_001293195.1:c.1466G>C	NP_001280124.1:p.Cys489Ser
NM_001293196.1:c.1190G>C	NP_001280125.1:p.Cys397Ser
NM_012222.2:c.1541G>C	NP_036354.1:p.Cys514Ser
XM_011541497.1:c.1526G>C	XP_011539799.1:p.Cys509Ser
XM_011541498.1:c.1508G>C	XP_011539800.1:p.Cys503Ser
XM_011541499.1:c.1508G>C	XP_011539801.1:p.Cys503Ser
XM_011541500.1:c.1508G>C	XP_011539802.1:p.Cys503Ser
XM_011541501.1:c.1508G>C	XP_011539803.1:p.Cys503Ser
XM_011541502.1:c.1508G>C	XP_011539804.1:p.Cys503Ser
XM_011541503.1:c.1508G>C	XP_011539805.1:p.Cys503Ser
XM_011541504.1:c.1499G>C	XP_011539806.1:p.Cys500Ser
XM_011541505.1:c.1088G>C	XP_011539807.1:p.Cys363Ser
XM_011541506.1:c.1088G>C	XP_011539808.1:p.Cys363Ser
XM_011541507.1:c.1079G>C	XP_011539809.1:p.Cys360Ser
XM_011541508.1:c.1094G>C	XP_011539810.1:p.Cys365Ser
XR_946658.1:n.1777G>C
NM_001350650.1:c.1121G>C	NP_001337579.1:p.Cys374Ser
NM_001350651.1:c.1121G>C	NP_001337580.1:p.Cys374Ser
NR_146882.1:n.1904G>C
NR_146883.1:n.1718G>C
XM_011541497.3:c.1526G>C	XP_011539799.1:p.Cys509Ser
XM_011541500.3:c.1508G>C	XP_011539802.1:p.Cys503Ser
XM_011541501.2:c.1508G>C	XP_011539803.1:p.Cys503Ser
XM_011541502.2:c.1508G>C	XP_011539804.1:p.Cys503Ser
XM_011541503.2:c.1508G>C	XP_011539805.1:p.Cys503Ser
XM_011541504.2:c.1499G>C	XP_011539806.1:p.Cys500Ser
XM_011541505.2:c.1088G>C	XP_011539807.1:p.Cys363Ser
XM_011541506.2:c.1088G>C	XP_011539808.1:p.Cys363Ser
XM_017001331.1:c.1508G>C	XP_016856820.1:p.Cys503Ser
XM_017001332.1:c.1508G>C	XP_016856821.1:p.Cys503Ser
XM_017001333.1:c.1508G>C	XP_016856822.1:p.Cys503Ser
XM_017001334.1:c.1469G>C	XP_016856823.1:p.Cys490Ser
XM_017001335.1:c.1190G>C	XP_016856824.1:p.Cys397Ser
XM_017001336.1:c.1121G>C	XP_016856825.1:p.Cys374Ser
XM_017001337.1:c.1121G>C	XP_016856826.1:p.Cys374Ser
XM_024447244.1:c.1121G>C	XP_024303012.1:p.Cys374Ser
XM_024447245.1:c.1121G>C	XP_024303013.1:p.Cys374Ser
XM_024447248.1:c.1079G>C	XP_024303016.1:p.Cys360Ser
XM_024447249.1:c.950G>C	XP_024303017.1:p.Cys317Ser
XM_024447250.1:c.950G>C	XP_024303018.1:p.Cys317Ser
XM_024447251.1:c.950G>C	XP_024303019.1:p.Cys317Ser
XR_001737190.1:n.1691G>C
XR_001737192.1:n.1503G>C
XR_002956643.1:n.1683G>C
XR_002956644.1:n.2218G>C
XR_946658.2:n.1791G>C
NM_001048171.2:c.1466G>C	NP_001041636.2:p.Cys489Ser
NM_001128425.2:c.1550G>C MANE Plus Clinical	NP_001121897.1:p.Cys517Ser
NM_001048172.2:c.1469G>C	NP_001041637.1:p.Cys490Ser
NM_001048173.2:c.1466G>C	NP_001041638.1:p.Cys489Ser
NM_001048174.2:c.1466G>C MANE Select	NP_001041639.1:p.Cys489Ser
NM_001293190.2:c.1511G>C	NP_001280119.1:p.Cys504Ser
NM_001293191.2:c.1499G>C	NP_001280120.1:p.Cys500Ser
NM_001293192.2:c.1190G>C	NP_001280121.1:p.Cys397Ser
NM_001293195.2:c.1466G>C	NP_001280124.1:p.Cys489Ser
NM_001293196.2:c.1190G>C	NP_001280125.1:p.Cys397Ser
NM_001350650.2:c.1121G>C	NP_001337579.1:p.Cys374Ser
NM_001350651.2:c.1121G>C	NP_001337580.1:p.Cys374Ser
NM_012222.3:c.1541G>C	NP_036354.1:p.Cys514Ser
NR_146882.2:n.1874G>C
NR_146883.2:n.1723G>C

Linked Data

Genomic Alleles

Transcript Alleles