Canonical Allele Identifier: CA2749549

Gene: MASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187256686G>A , CM000665.2:g.187256686G>A	GRCh38
NC_000003.11:g.186974474G>A , CM000665.1:g.186974474G>A	GRCh37
NC_000003.10:g.188457168G>A	NCBI36
NG_029440.1:g.40337C>T , LRG_349:g.40337C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139125.4:c.722C>T MANE Select	NP_624302.1:p.Pro241Leu
ENST00000296280.11:c.722C>T MANE Select	ENSP00000296280.7:p.Pro241Leu
NM_001879.6:c.722C>T MANE Plus Clinical	NP_001870.3:p.Pro241Leu
ENST00000337774.10:c.722C>T MANE Plus Clinical	ENSP00000336792.5:p.Pro241Leu
NM_001031849.2:c.722C>T , LRG_349t1:c.722C>T	NP_001027019.1:p.Pro241Leu
NM_001031849.3:c.722C>T	NP_001027019.1:p.Pro241Leu
NM_001879.5:c.722C>T , LRG_349t2:c.722C>T	NP_001870.3:p.Pro241Leu
NM_139125.3:c.722C>T , LRG_349t3:c.722C>T	NP_624302.1:p.Pro241Leu
NR_033519.1:n.880C>T
NR_033519.2:n.595C>T
ENST00000169293.10:c.722C>T	ENSP00000169293.6:p.Pro241Leu
ENST00000296280.10:c.722C>T	ENSP00000296280.6:p.Pro241Leu
ENST00000337774.9:c.722C>T	ENSP00000336792.5:p.Pro241Leu
ENST00000392470.6:c.644C>T	ENSP00000376262.2:p.Pro215Leu
ENST00000392472.6:c.383C>T	ENSP00000376264.2:p.Pro128Leu
ENST00000460839.5:n.669C>T
ENST00000495249.1:n.67-20299C>T
XM_006713700.2:c.644C>T	XP_006713763.1:p.Pro215Leu
XM_006713701.1:c.644C>T	XP_006713764.1:p.Pro215Leu
XM_006713701.2:c.644C>T	XP_006713764.1:p.Pro215Leu
XM_011512989.1:c.743C>T	XP_011511291.1:p.Pro248Leu
XM_011512989.2:c.743C>T	XP_011511291.1:p.Pro248Leu
XM_011512990.1:c.743C>T	XP_011511292.1:p.Pro248Leu
XM_011512990.2:c.743C>T	XP_011511292.1:p.Pro248Leu
XM_011512991.1:c.743C>T	XP_011511293.1:p.Pro248Leu
XM_011512991.2:c.743C>T	XP_011511293.1:p.Pro248Leu
XM_017006869.1:c.644C>T	XP_016862358.1:p.Pro215Leu
XM_017006870.2:c.629C>T	XP_016862359.1:p.Pro210Leu
XM_017006871.1:c.743C>T	XP_016862360.1:p.Pro248Leu
XM_017006872.1:c.383C>T	XP_016862361.1:p.Pro128Leu