Canonical Allele Identifier: CA2749245

Gene: MASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187236364G>A , CM000665.2:g.187236364G>A	GRCh38
NC_000003.11:g.186954152G>A , CM000665.1:g.186954152G>A	GRCh37
NC_000003.10:g.188436846G>A	NCBI36
NG_029440.1:g.60659C>T , LRG_349:g.60659C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139125.4:c.1507C>T MANE Select	NP_624302.1:p.Arg503Cys
ENST00000296280.11:c.1507C>T MANE Select	ENSP00000296280.7:p.Arg503Cys
NM_001879.6:c.1303+5117C>T MANE Plus Clinical	NP_001870.3:n.1303+5117C>T
ENST00000337774.10:c.1303+5117C>T MANE Plus Clinical	ENSP00000336792.5:n.1303+5117C>T
NM_001879.5:c.1303+5117C>T , LRG_349t2:c.1303+5117C>T	NP_001870.3:n.1303+5117C>T
NM_139125.3:c.1507C>T , LRG_349t3:c.1507C>T	NP_624302.1:p.Arg503Cys
NR_033519.1:n.1665C>T
NR_033519.2:n.1380C>T
ENST00000296280.10:c.1507C>T	ENSP00000296280.6:p.Arg503Cys
ENST00000337774.9:c.1303+5117C>T	ENSP00000336792.5:n.1303+5117C>T
ENST00000392472.6:c.1168C>T	ENSP00000376264.2:p.Arg390Cys
ENST00000468121.1:n.177+5117C>T
ENST00000480349.1:n.3700C>T
ENST00000495249.1:n.90C>T
XM_006713700.2:c.1429C>T	XP_006713763.1:p.Arg477Cys
XM_011512989.1:c.1528C>T	XP_011511291.1:p.Arg510Cys
XM_011512989.2:c.1528C>T	XP_011511291.1:p.Arg510Cys
XM_011512990.1:c.1324+5117C>T	XP_011511292.1:n.1324+5117C>T
XM_011512990.2:c.1324+5117C>T	XP_011511292.1:n.1324+5117C>T
XM_017006869.1:c.1429C>T	XP_016862358.1:p.Arg477Cys
XM_017006870.2:c.1210+5117C>T	XP_016862359.1:n.1210+5117C>T
XM_017006871.1:c.1324+5117C>T	XP_016862360.1:n.1324+5117C>T
XM_017006872.1:c.1168C>T	XP_016862361.1:p.Arg390Cys