Canonical Allele Identifier: CA2749244

Gene: MASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187236363C>T , CM000665.2:g.187236363C>T	GRCh38
NC_000003.11:g.186954151C>T , CM000665.1:g.186954151C>T	GRCh37
NC_000003.10:g.188436845C>T	NCBI36
NG_029440.1:g.60660G>A , LRG_349:g.60660G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139125.4:c.1508G>A MANE Select	NP_624302.1:p.Arg503His
ENST00000296280.11:c.1508G>A MANE Select	ENSP00000296280.7:p.Arg503His
NM_001879.6:c.1303+5118G>A MANE Plus Clinical	NP_001870.3:n.1303+5118G>A
ENST00000337774.10:c.1303+5118G>A MANE Plus Clinical	ENSP00000336792.5:n.1303+5118G>A
NM_001879.5:c.1303+5118G>A , LRG_349t2:c.1303+5118G>A	NP_001870.3:n.1303+5118G>A
NM_139125.3:c.1508G>A , LRG_349t3:c.1508G>A	NP_624302.1:p.Arg503His
NR_033519.1:n.1666G>A
NR_033519.2:n.1381G>A
ENST00000296280.10:c.1508G>A	ENSP00000296280.6:p.Arg503His
ENST00000337774.9:c.1303+5118G>A	ENSP00000336792.5:n.1303+5118G>A
ENST00000392472.6:c.1169G>A	ENSP00000376264.2:p.Arg390His
ENST00000468121.1:n.177+5118G>A
ENST00000480349.1:n.3701G>A
ENST00000495249.1:n.91G>A
XM_006713700.2:c.1430G>A	XP_006713763.1:p.Arg477His
XM_011512989.1:c.1529G>A	XP_011511291.1:p.Arg510His
XM_011512989.2:c.1529G>A	XP_011511291.1:p.Arg510His
XM_011512990.1:c.1324+5118G>A	XP_011511292.1:n.1324+5118G>A
XM_011512990.2:c.1324+5118G>A	XP_011511292.1:n.1324+5118G>A
XM_017006869.1:c.1430G>A	XP_016862358.1:p.Arg477His
XM_017006870.2:c.1210+5118G>A	XP_016862359.1:n.1210+5118G>A
XM_017006871.1:c.1324+5118G>A	XP_016862360.1:n.1324+5118G>A
XM_017006872.1:c.1169G>A	XP_016862361.1:p.Arg390His