Canonical Allele Identifier: CA1139658384

Gene: MASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187236379dup , CM000665.2:g.187236379dup	GRCh38
NC_000003.11:g.186954167dup , CM000665.1:g.186954167dup	GRCh37
NC_000003.10:g.188436861dup	NCBI36
NG_029440.1:g.60644dup , LRG_349:g.60644dup

Transcript Alleles

HGVS	Amino-acid Change
NM_139125.4:c.1492dup MANE Select	NP_624302.1:p.Val498GlyfsTer7
ENST00000296280.11:c.1492dup MANE Select	ENSP00000296280.7:p.Val498GlyfsTer7
NM_001879.6:c.1303+5102dup MANE Plus Clinical	NP_001870.3:n.1303+5102dup
ENST00000337774.10:c.1303+5102dup MANE Plus Clinical	ENSP00000336792.5:n.1303+5102dup
NM_001879.5:c.1303+5102dup , LRG_349t2:c.1303+5102dup	NP_001870.3:n.1303+5102dup
NM_139125.3:c.1492dup , LRG_349t3:c.1492dup	NP_624302.1:p.Val498GlyfsTer7
NR_033519.1:n.1650dup
NR_033519.2:n.1365dup
ENST00000296280.10:c.1492dup	ENSP00000296280.6:p.Val498GlyfsTer7
ENST00000337774.9:c.1303+5102dup	ENSP00000336792.5:n.1303+5102dup
ENST00000392472.6:c.1153dup	ENSP00000376264.2:p.Val385GlyfsTer7
ENST00000468121.1:n.177+5102dup
ENST00000480349.1:n.3685dup
ENST00000495249.1:n.75dup
XM_006713700.2:c.1414dup	XP_006713763.1:p.Val472GlyfsTer7
XM_011512989.1:c.1513dup	XP_011511291.1:p.Val505GlyfsTer7
XM_011512989.2:c.1513dup	XP_011511291.1:p.Val505GlyfsTer7
XM_011512990.1:c.1324+5102dup	XP_011511292.1:n.1324+5102dup
XM_011512990.2:c.1324+5102dup	XP_011511292.1:n.1324+5102dup
XM_017006869.1:c.1414dup	XP_016862358.1:p.Val472GlyfsTer7
XM_017006870.2:c.1210+5102dup	XP_016862359.1:n.1210+5102dup
XM_017006871.1:c.1324+5102dup	XP_016862360.1:n.1324+5102dup
XM_017006872.1:c.1153dup	XP_016862361.1:p.Val385GlyfsTer7