Canonical Allele Identifier: CA1337695129

Gene: MLPH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237527441T= , CM000664.2:g.237527441T=	GRCh38
NC_000002.11:g.238436084T= , CM000664.1:g.238436084T=	GRCh37
NC_000002.10:g.238100823T=	NCBI36
NG_007286.1:g.45155T= , LRG_83:g.45155T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264605.8:c.945T= MANE Select	ENSP00000264605.3:p.Asp315=
ENST00000264605.7:c.945T=	ENSP00000264605.3:p.Asp315=
ENST00000338530.8:c.945T=	ENSP00000341845.4:p.Asp315=
ENST00000409373.5:c.825T=	ENSP00000386780.1:p.Asp275=
ENST00000410032.5:c.675+7412T=	ENSP00000386338.1:n.675+7412T=
ENST00000415753.5:c.7T=
ENST00000436965.5:c.191T=
ENST00000437893.5:c.300+1636T=	ENSP00000412438.1:n.300+1636T=
ENST00000464123.5:n.1010T=
ENST00000468178.5:n.1156T=
ENST00000478712.5:n.624T=
ENST00000482528.1:n.197T=
ENST00000485956.1:n.321T=
ENST00000494110.5:n.625T=
ENST00000495439.5:n.1322T=
NM_001042467.2:c.945T=	NP_001035932.1:p.Asp315=
NM_001281473.1:c.825T=	NP_001268402.1:p.Asp275=
NM_001281474.1:c.675+7412T=	NP_001268403.1:n.675+7412T=
NM_024101.6:c.945T=	NP_077006.1:p.Asp315=
NR_104019.1:n.1188T=
XM_006712737.1:c.825T=	XP_006712800.1:p.Asp275=
XM_006712739.1:c.945T=	XP_006712802.1:p.Asp315=
XM_006712740.1:c.825T=	XP_006712803.1:p.Asp275=
XM_011511811.1:c.945T=	XP_011510113.1:p.Asp315=
XM_011511812.1:c.510T=	XP_011510114.1:p.Asp170=
XR_923025.1:n.1156T=
XM_017004893.1:c.945T=	XP_016860382.1:p.Asp315=
XM_017004894.2:c.945T=	XP_016860383.1:p.Asp315=
NM_024101.7:c.945T= MANE Select	NP_077006.1:p.Asp315=
NM_001042467.3:c.945T=	NP_001035932.1:p.Asp315=
NM_001281473.2:c.825T=	NP_001268402.1:p.Asp275=
NM_001281474.2:c.675+7412T=	NP_001268403.1:n.675+7412T=
NR_104019.2:n.1156T=