Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331751G>T , CM000663.2:g.45331751G>T	GRCh38
NC_000001.10:g.45797423G>T , CM000663.1:g.45797423G>T	GRCh37
NC_000001.9:g.45570010G>T	NCBI36
NG_008189.1:g.13720C>A , LRG_220:g.13720C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.628C>A	ENSP00000410263.2:p.Pro210Thr
ENST00000435155.2:c.1045C>A	ENSP00000403655.2:p.Pro349Thr
ENST00000467459.6:c.1035C>A	ENSP00000435889.2:p.Ser345Arg
ENST00000483127.2:c.1030C>A	ENSP00000436469.2:p.Pro344Thr
ENST00000485271.6:c.1012C>A	ENSP00000431264.2:p.Pro338Thr
ENST00000529892.6:c.956-195C>A	ENSP00000432528.2:n.956-195C>A
ENST00000533178.6:c.*341C>A	ENSP00000436430.2:n.*341C>A
ENST00000672314.2:c.1012C>A	ENSP00000500828.2:p.Pro338Thr
ENST00000710952.2:c.1096C>A MANE Plus Clinical	ENSP00000518552.2:p.Pro366Thr
ENST00000672818.3:c.1087C>A	ENSP00000500891.1:p.Pro363Thr
ENST00000456914.7:c.1012C>A MANE Select	ENSP00000407590.2:p.Pro338Thr
ENST00000671898.1:c.1600C>A	ENSP00000499896.1:p.Pro534Thr
ENST00000672011.1:c.*341C>A	ENSP00000500418.1:n.*341C>A
ENST00000672314.1:c.1012C>A	ENSP00000500828.1:p.Pro338Thr
ENST00000672593.1:c.*1238C>A	ENSP00000500455.1:n.*1238C>A
ENST00000672764.1:c.*341C>A	ENSP00000500886.1:n.*341C>A
ENST00000672818.2:c.1087C>A	ENSP00000500891.1:p.Pro363Thr
ENST00000673134.1:c.*709C>A	ENSP00000500526.1:n.*709C>A
ENST00000354383.10:c.1015C>A	ENSP00000346354.6:p.Pro339Thr
ENST00000355498.6:c.1012C>A	ENSP00000347685.2:p.Pro338Thr
ENST00000372098.7:c.1087C>A	ENSP00000361170.3:p.Pro363Thr
ENST00000372104.5:c.1012C>A	ENSP00000361176.1:p.Pro338Thr
ENST00000372110.7:c.1057C>A	ENSP00000361182.3:p.Pro353Thr
ENST00000372115.7:c.1054C>A	ENSP00000361187.3:p.Pro352Thr
ENST00000412971.5:c.628C>A	ENSP00000410263.1:p.Pro210Thr
ENST00000448481.5:c.1045C>A	ENSP00000409718.1:p.Pro349Thr
ENST00000450313.5:c.1096C>A	ENSP00000408176.1:p.Pro366Thr
ENST00000456914.6:c.1012C>A	ENSP00000407590.2:p.Pro338Thr
ENST00000462388.5:n.876C>A
ENST00000467459.5:c.429C>A	ENSP00000435889.1:p.Ser143Arg
ENST00000475516.5:c.*825C>A	ENSP00000433843.1:n.*825C>A
ENST00000481571.5:c.*825C>A	ENSP00000436597.1:n.*825C>A
ENST00000482094.5:n.333C>A
ENST00000488731.6:c.188-195C>A	ENSP00000432330.1:n.188-195C>A
ENST00000528013.6:c.1054C>A	ENSP00000433130.2:p.Pro352Thr
ENST00000529892.5:c.178-195C>A
ENST00000529984.5:c.188-195C>A	ENSP00000437093.1:n.188-195C>A
ENST00000531105.5:c.116-2314C>A	ENSP00000431292.1:n.116-2314C>A
ENST00000533178.5:c.641C>A	ENSP00000436430.1:n.641C>A
NM_001048171.1:c.1054C>A	NP_001041636.1:p.Pro352Thr
NM_001048172.1:c.1015C>A	NP_001041637.1:p.Pro339Thr
NM_001048173.1:c.1012C>A	NP_001041638.1:p.Pro338Thr
NM_001048174.1:c.1012C>A	NP_001041639.1:p.Pro338Thr
NM_001128425.1:c.1096C>A , LRG_220t1:c.1096C>A	NP_001121897.1:p.Pro366Thr
NM_001293190.1:c.1057C>A	NP_001280119.1:p.Pro353Thr
NM_001293191.1:c.1045C>A	NP_001280120.1:p.Pro349Thr
NM_001293192.1:c.736C>A	NP_001280121.1:p.Pro246Thr
NM_001293195.1:c.1012C>A	NP_001280124.1:p.Pro338Thr
NM_001293196.1:c.736C>A	NP_001280125.1:p.Pro246Thr
NM_012222.2:c.1087C>A	NP_036354.1:p.Pro363Thr
XM_011541497.1:c.1072C>A	XP_011539799.1:p.Pro358Thr
XM_011541498.1:c.1054C>A	XP_011539800.1:p.Pro352Thr
XM_011541499.1:c.1054C>A	XP_011539801.1:p.Pro352Thr
XM_011541500.1:c.1054C>A	XP_011539802.1:p.Pro352Thr
XM_011541501.1:c.1054C>A	XP_011539803.1:p.Pro352Thr
XM_011541502.1:c.1054C>A	XP_011539804.1:p.Pro352Thr
XM_011541503.1:c.1054C>A	XP_011539805.1:p.Pro352Thr
XM_011541504.1:c.1045C>A	XP_011539806.1:p.Pro349Thr
XM_011541505.1:c.634C>A	XP_011539807.1:p.Pro212Thr
XM_011541506.1:c.634C>A	XP_011539808.1:p.Pro212Thr
XM_011541507.1:c.625C>A	XP_011539809.1:p.Pro209Thr
XM_011541508.1:c.640C>A	XP_011539810.1:p.Pro214Thr
XR_946658.1:n.1143C>A
NM_001350650.1:c.667C>A	NP_001337579.1:p.Pro223Thr
NM_001350651.1:c.667C>A	NP_001337580.1:p.Pro223Thr
NR_146882.1:n.1270C>A
NR_146883.1:n.1084C>A
XM_011541497.3:c.1072C>A	XP_011539799.1:p.Pro358Thr
XM_011541500.3:c.1054C>A	XP_011539802.1:p.Pro352Thr
XM_011541501.2:c.1054C>A	XP_011539803.1:p.Pro352Thr
XM_011541502.2:c.1054C>A	XP_011539804.1:p.Pro352Thr
XM_011541503.2:c.1054C>A	XP_011539805.1:p.Pro352Thr
XM_011541504.2:c.1045C>A	XP_011539806.1:p.Pro349Thr
XM_011541505.2:c.634C>A	XP_011539807.1:p.Pro212Thr
XM_011541506.2:c.634C>A	XP_011539808.1:p.Pro212Thr
XM_017001331.1:c.1054C>A	XP_016856820.1:p.Pro352Thr
XM_017001332.1:c.1054C>A	XP_016856821.1:p.Pro352Thr
XM_017001333.1:c.1054C>A	XP_016856822.1:p.Pro352Thr
XM_017001334.1:c.1015C>A	XP_016856823.1:p.Pro339Thr
XM_017001335.1:c.736C>A	XP_016856824.1:p.Pro246Thr
XM_017001336.1:c.667C>A	XP_016856825.1:p.Pro223Thr
XM_017001337.1:c.667C>A	XP_016856826.1:p.Pro223Thr
XM_024447244.1:c.667C>A	XP_024303012.1:p.Pro223Thr
XM_024447245.1:c.667C>A	XP_024303013.1:p.Pro223Thr
XM_024447248.1:c.625C>A	XP_024303016.1:p.Pro209Thr
XM_024447249.1:c.496C>A	XP_024303017.1:p.Pro166Thr
XM_024447250.1:c.496C>A	XP_024303018.1:p.Pro166Thr
XM_024447251.1:c.496C>A	XP_024303019.1:p.Pro166Thr
XR_001737190.1:n.1057C>A
XR_001737192.1:n.869C>A
XR_002956643.1:n.1049C>A
XR_002956644.1:n.1584C>A
XR_946658.2:n.1157C>A
NM_001048171.2:c.1012C>A	NP_001041636.2:p.Pro338Thr
NM_001128425.2:c.1096C>A MANE Plus Clinical	NP_001121897.1:p.Pro366Thr
NM_001048172.2:c.1015C>A	NP_001041637.1:p.Pro339Thr
NM_001048173.2:c.1012C>A	NP_001041638.1:p.Pro338Thr
NM_001048174.2:c.1012C>A MANE Select	NP_001041639.1:p.Pro338Thr
NM_001293190.2:c.1057C>A	NP_001280119.1:p.Pro353Thr
NM_001293191.2:c.1045C>A	NP_001280120.1:p.Pro349Thr
NM_001293192.2:c.736C>A	NP_001280121.1:p.Pro246Thr
NM_001293195.2:c.1012C>A	NP_001280124.1:p.Pro338Thr
NM_001293196.2:c.736C>A	NP_001280125.1:p.Pro246Thr
NM_001350650.2:c.667C>A	NP_001337579.1:p.Pro223Thr
NM_001350651.2:c.667C>A	NP_001337580.1:p.Pro223Thr
NM_012222.3:c.1087C>A	NP_036354.1:p.Pro363Thr
NR_146882.2:n.1240C>A
NR_146883.2:n.1089C>A

Linked Data

Genomic Alleles

Transcript Alleles