Canonical Allele Identifier: CA437397137

Gene: MASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187256829C>T , CM000665.2:g.187256829C>T	GRCh38
NC_000003.11:g.186974617C>T , CM000665.1:g.186974617C>T	GRCh37
NC_000003.10:g.188457311C>T	NCBI36
NG_029440.1:g.40194G>A , LRG_349:g.40194G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139125.4:c.579G>A MANE Select	NP_624302.1:p.Arg193=
ENST00000296280.11:c.579G>A MANE Select	ENSP00000296280.7:p.Arg193=
NM_001879.6:c.579G>A MANE Plus Clinical	NP_001870.3:p.Arg193=
ENST00000337774.10:c.579G>A MANE Plus Clinical	ENSP00000336792.5:p.Arg193=
NM_001031849.2:c.579G>A , LRG_349t1:c.579G>A	NP_001027019.1:p.Arg193=
NM_001031849.3:c.579G>A	NP_001027019.1:p.Arg193=
NM_001879.5:c.579G>A , LRG_349t2:c.579G>A	NP_001870.3:p.Arg193=
NM_139125.3:c.579G>A , LRG_349t3:c.579G>A	NP_624302.1:p.Arg193=
NR_033519.1:n.737G>A
NR_033519.2:n.452G>A
ENST00000169293.10:c.579G>A	ENSP00000169293.6:p.Arg193=
ENST00000296280.10:c.579G>A	ENSP00000296280.6:p.Arg193=
ENST00000337774.9:c.579G>A	ENSP00000336792.5:p.Arg193=
ENST00000392470.6:c.501G>A	ENSP00000376262.2:p.Arg167=
ENST00000392472.6:c.240G>A	ENSP00000376264.2:p.Arg80=
ENST00000392475.2:c.600G>A	ENSP00000376267.2:p.Arg200=
ENST00000460839.5:n.526G>A
ENST00000490558.5:n.534G>A
ENST00000495249.1:n.67-20442G>A
XM_006713700.2:c.501G>A	XP_006713763.1:p.Arg167=
XM_006713701.1:c.501G>A	XP_006713764.1:p.Arg167=
XM_006713701.2:c.501G>A	XP_006713764.1:p.Arg167=
XM_011512989.1:c.600G>A	XP_011511291.1:p.Arg200=
XM_011512989.2:c.600G>A	XP_011511291.1:p.Arg200=
XM_011512990.1:c.600G>A	XP_011511292.1:p.Arg200=
XM_011512990.2:c.600G>A	XP_011511292.1:p.Arg200=
XM_011512991.1:c.600G>A	XP_011511293.1:p.Arg200=
XM_011512991.2:c.600G>A	XP_011511293.1:p.Arg200=
XM_017006869.1:c.501G>A	XP_016862358.1:p.Arg167=
XM_017006870.2:c.486G>A	XP_016862359.1:p.Arg162=
XM_017006871.1:c.600G>A	XP_016862360.1:p.Arg200=
XM_017006872.1:c.240G>A	XP_016862361.1:p.Arg80=