Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201365635G>A , CM000663.2:g.201365635G>A	GRCh38
NC_000001.10:g.201334763G>A , CM000663.1:g.201334763G>A	GRCh37
NC_000001.9:g.199601386G>A	NCBI36
NG_007556.1:g.17043C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000455702.7:c.254C>T	ENSP00000402238.3:p.Pro85Leu
ENST00000367318.10:c.239C>T	ENSP00000356287.5:p.Pro80Leu
ENST00000367322.6:c.236C>T	ENSP00000356291.2:p.Pro79Leu
ENST00000412633.3:c.239C>T	ENSP00000408731.2:p.Pro80Leu
ENST00000422165.6:c.269C>T	ENSP00000395163.2:p.Pro90Leu
ENST00000438742.6:c.221C>T	ENSP00000414036.2:p.Pro74Leu
ENST00000455702.6:c.254C>T	ENSP00000402238.2:p.Pro85Leu
ENST00000651504.1:n.733C>T
ENST00000656932.1:c.269C>T MANE Select	ENSP00000499593.1:p.Pro90Leu
ENST00000658476.1:c.239C>T	ENSP00000499741.1:p.Pro80Leu
ENST00000660295.1:c.239C>T	ENSP00000499418.1:p.Pro80Leu
ENST00000662159.1:c.162+2143C>T	ENSP00000499796.1:n.162+2143C>T
ENST00000663843.1:c.*169C>T	ENSP00000499590.1:n.*169C>T
ENST00000666449.1:c.239C>T	ENSP00000499667.1:p.Pro80Leu
ENST00000236918.11:c.269C>T	ENSP00000236918.8:p.Pro90Leu
ENST00000360372.8:c.266C>T	ENSP00000353535.5:p.Pro89Leu
ENST00000367315.6:c.245C>T	ENSP00000356284.3:p.Pro82Leu
ENST00000367317.8:c.224C>T	ENSP00000356286.5:p.Pro75Leu
ENST00000367318.9:c.239C>T	ENSP00000356287.5:p.Pro80Leu
ENST00000367320.6:c.266C>T	ENSP00000356289.2:p.Pro89Leu
ENST00000367322.5:c.239C>T	ENSP00000356291.1:p.Pro80Leu
ENST00000412633.2:c.236C>T	ENSP00000408731.1:p.Pro79Leu
ENST00000421663.6:c.62C>T	ENSP00000404134.3:p.Pro21Leu
ENST00000422165.5:c.254C>T	ENSP00000395163.1:p.Pro85Leu
ENST00000438742.5:c.224C>T	ENSP00000414036.1:p.Pro75Leu
ENST00000455702.5:c.269C>T	ENSP00000402238.1:p.Pro90Leu
ENST00000458432.6:c.62C>T	ENSP00000387874.3:p.Pro21Leu
ENST00000466570.5:n.495C>T
ENST00000491504.5:n.1478C>T
ENST00000503459.1:n.108C>T
ENST00000509001.5:c.239C>T	ENSP00000422031.1:p.Pro80Leu
ENST00000515042.5:n.165C>T
NM_000364.3:c.269C>T	NP_000355.2:p.Pro90Leu
NM_001001430.2:c.239C>T	NP_001001430.1:p.Pro80Leu
NM_001001431.2:c.239C>T	NP_001001431.1:p.Pro80Leu
NM_001001432.2:c.224C>T	NP_001001432.1:p.Pro75Leu
NM_001276345.1:c.269C>T	NP_001263274.1:p.Pro90Leu
NM_001276346.1:c.266C>T	NP_001263275.1:p.Pro89Leu
NM_001276347.1:c.239C>T	NP_001263276.1:p.Pro80Leu
XM_006711508.2:c.239C>T	XP_006711571.1:p.Pro80Leu
XM_006711509.2:c.236C>T	XP_006711572.1:p.Pro79Leu
XM_011509938.1:c.269C>T	XP_011508240.1:p.Pro90Leu
XM_011509939.1:c.266C>T	XP_011508241.1:p.Pro89Leu
XM_011509940.1:c.269C>T	XP_011508242.1:p.Pro90Leu
XM_011509941.1:c.266C>T	XP_011508243.1:p.Pro89Leu
XM_011509942.1:c.224C>T	XP_011508244.1:p.Pro75Leu
XM_011509943.1:c.224C>T	XP_011508245.1:p.Pro75Leu
XM_011509944.1:c.221C>T	XP_011508246.1:p.Pro74Leu
XM_011509945.1:c.269C>T	XP_011508247.1:p.Pro90Leu
XM_011509946.1:c.62C>T	XP_011508248.1:p.Pro21Leu
XM_006711508.3:c.239C>T	XP_006711571.1:p.Pro80Leu
XM_006711509.3:c.236C>T	XP_006711572.1:p.Pro79Leu
XM_011509938.2:c.269C>T	XP_011508240.1:p.Pro90Leu
XM_011509940.2:c.269C>T	XP_011508242.1:p.Pro90Leu
XM_011509941.2:c.266C>T	XP_011508243.1:p.Pro89Leu
XM_011509942.2:c.224C>T	XP_011508244.1:p.Pro75Leu
XM_011509943.2:c.224C>T	XP_011508245.1:p.Pro75Leu
XM_011509944.2:c.221C>T	XP_011508246.1:p.Pro74Leu
XM_017002216.2:c.239C>T	XP_016857705.1:p.Pro80Leu
XM_017002217.1:c.239C>T	XP_016857706.1:p.Pro80Leu
XM_024449450.1:c.269C>T	XP_024305218.1:p.Pro90Leu
XM_024449454.1:c.236C>T	XP_024305222.1:p.Pro79Leu
XM_024449455.1:c.239C>T	XP_024305223.1:p.Pro80Leu
NM_000364.4:c.269C>T	NP_000355.2:p.Pro90Leu
NM_001001430.3:c.239C>T	NP_001001430.1:p.Pro80Leu
NM_001001431.3:c.239C>T	NP_001001431.1:p.Pro80Leu
NM_001001432.3:c.224C>T	NP_001001432.1:p.Pro75Leu
NM_001276345.2:c.269C>T MANE Select	NP_001263274.1:p.Pro90Leu
NM_001276346.2:c.266C>T	NP_001263275.1:p.Pro89Leu
NM_001276347.2:c.239C>T	NP_001263276.1:p.Pro80Leu

Linked Data

Genomic Alleles

Transcript Alleles