Canonical Allele Identifier: CA2749632

Gene: MASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187260871A>G , CM000665.2:g.187260871A>G	GRCh38
NC_000003.11:g.186978659A>G , CM000665.1:g.186978659A>G	GRCh37
NC_000003.10:g.188461353A>G	NCBI36
NG_029440.1:g.36152T>C , LRG_349:g.36152T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_139125.4:c.417T>C MANE Select	NP_624302.1:p.Asp139=
ENST00000296280.11:c.417T>C MANE Select	ENSP00000296280.7:p.Asp139=
NM_001879.6:c.417T>C MANE Plus Clinical	NP_001870.3:p.Asp139=
ENST00000337774.10:c.417T>C MANE Plus Clinical	ENSP00000336792.5:p.Asp139=
NM_001031849.2:c.417T>C , LRG_349t1:c.417T>C	NP_001027019.1:p.Asp139=
NM_001031849.3:c.417T>C	NP_001027019.1:p.Asp139=
NM_001879.5:c.417T>C , LRG_349t2:c.417T>C	NP_001870.3:p.Asp139=
NM_139125.3:c.417T>C , LRG_349t3:c.417T>C	NP_624302.1:p.Asp139=
NR_033519.1:n.575T>C
NR_033519.2:n.290T>C
ENST00000169293.10:c.417T>C	ENSP00000169293.6:p.Asp139=
ENST00000296280.10:c.417T>C	ENSP00000296280.6:p.Asp139=
ENST00000337774.9:c.417T>C	ENSP00000336792.5:p.Asp139=
ENST00000392470.6:c.339T>C	ENSP00000376262.2:p.Asp113=
ENST00000392472.6:c.78T>C	ENSP00000376264.2:p.Asp26=
ENST00000392475.2:c.438T>C	ENSP00000376267.2:p.Asp146=
ENST00000460839.5:n.364T>C
ENST00000465015.1:n.409T>C
ENST00000490558.5:n.372T>C
ENST00000495249.1:n.67-24484T>C
XM_006713700.2:c.339T>C	XP_006713763.1:p.Asp113=
XM_006713701.1:c.339T>C	XP_006713764.1:p.Asp113=
XM_006713701.2:c.339T>C	XP_006713764.1:p.Asp113=
XM_011512989.1:c.438T>C	XP_011511291.1:p.Asp146=
XM_011512989.2:c.438T>C	XP_011511291.1:p.Asp146=
XM_011512990.1:c.438T>C	XP_011511292.1:p.Asp146=
XM_011512990.2:c.438T>C	XP_011511292.1:p.Asp146=
XM_011512991.1:c.438T>C	XP_011511293.1:p.Asp146=
XM_011512991.2:c.438T>C	XP_011511293.1:p.Asp146=
XM_017006869.1:c.339T>C	XP_016862358.1:p.Asp113=
XM_017006870.2:c.324T>C	XP_016862359.1:p.Asp108=
XM_017006871.1:c.438T>C	XP_016862360.1:p.Asp146=
XM_017006872.1:c.78T>C	XP_016862361.1:p.Asp26=