Canonical Allele Identifier: CA2749343

Gene: MASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187243569A>G , CM000665.2:g.187243569A>G	GRCh38
NC_000003.11:g.186961357A>G , CM000665.1:g.186961357A>G	GRCh37
NC_000003.10:g.188444051A>G	NCBI36
NG_029440.1:g.53454T>C , LRG_349:g.53454T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_139125.4:c.1143T>C MANE Select	NP_624302.1:p.Ser381=
ENST00000296280.11:c.1143T>C MANE Select	ENSP00000296280.7:p.Ser381=
NM_001879.6:c.1143T>C MANE Plus Clinical	NP_001870.3:p.Ser381=
ENST00000337774.10:c.1143T>C MANE Plus Clinical	ENSP00000336792.5:p.Ser381=
NM_001879.5:c.1143T>C , LRG_349t2:c.1143T>C	NP_001870.3:p.Ser381=
NM_139125.3:c.1143T>C , LRG_349t3:c.1143T>C	NP_624302.1:p.Ser381=
NR_033519.1:n.1301T>C
NR_033519.2:n.1016T>C
ENST00000296280.10:c.1143T>C	ENSP00000296280.6:p.Ser381=
ENST00000337774.9:c.1143T>C	ENSP00000336792.5:p.Ser381=
ENST00000392472.6:c.804T>C	ENSP00000376264.2:p.Ser268=
ENST00000468121.1:n.17T>C
ENST00000480349.1:n.1408T>C
ENST00000495249.1:n.67-7182T>C
XM_006713700.2:c.1065T>C	XP_006713763.1:p.Ser355=
XM_011512989.1:c.1164T>C	XP_011511291.1:p.Ser388=
XM_011512989.2:c.1164T>C	XP_011511291.1:p.Ser388=
XM_011512990.1:c.1164T>C	XP_011511292.1:p.Ser388=
XM_011512990.2:c.1164T>C	XP_011511292.1:p.Ser388=
XM_017006869.1:c.1065T>C	XP_016862358.1:p.Ser355=
XM_017006870.2:c.1050T>C	XP_016862359.1:p.Ser350=
XM_017006871.1:c.1164T>C	XP_016862360.1:p.Ser388=
XM_017006872.1:c.804T>C	XP_016862361.1:p.Ser268=