Canonical Allele Identifier: CA2190401

Gene: MLPH

Linked Data

• dbSNP Id: rs147806726
• ExAC: 2:238436020 G / C
• gnomAD v2: 2-238436020-G-C
• gnomAD v3: 2-237527377-G-C
• gnomAD v4: 2-237527377-G-C
• MyVariant Identifiers: chr2:g.238436020G>C (hg19) ; chr2:g.237527377G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237527377G>C , CM000664.2:g.237527377G>C	GRCh38
NC_000002.11:g.238436020G>C , CM000664.1:g.238436020G>C	GRCh37
NC_000002.10:g.238100759G>C	NCBI36
NG_007286.1:g.45091G>C , LRG_83:g.45091G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264605.8:c.881G>C MANE Select	ENSP00000264605.3:p.Gly294Ala
ENST00000264605.7:c.881G>C	ENSP00000264605.3:p.Gly294Ala
ENST00000338530.8:c.881G>C	ENSP00000341845.4:p.Gly294Ala
ENST00000409373.5:c.761G>C	ENSP00000386780.1:p.Gly254Ala
ENST00000410032.5:c.675+7348G>C	ENSP00000386338.1:n.675+7348G>C
ENST00000436965.5:c.127G>C
ENST00000437893.5:c.300+1572G>C	ENSP00000412438.1:n.300+1572G>C
ENST00000464123.5:n.946G>C
ENST00000468178.5:n.1092G>C
ENST00000478712.5:n.560G>C
ENST00000482528.1:n.133G>C
ENST00000485956.1:n.257G>C
ENST00000494110.5:n.561G>C
ENST00000495439.5:n.1258G>C
NM_001042467.2:c.881G>C	NP_001035932.1:p.Gly294Ala
NM_001281473.1:c.761G>C	NP_001268402.1:p.Gly254Ala
NM_001281474.1:c.675+7348G>C	NP_001268403.1:n.675+7348G>C
NM_024101.6:c.881G>C	NP_077006.1:p.Gly294Ala
NR_104019.1:n.1124G>C
XM_006712737.1:c.761G>C	XP_006712800.1:p.Gly254Ala
XM_006712739.1:c.881G>C	XP_006712802.1:p.Gly294Ala
XM_006712740.1:c.761G>C	XP_006712803.1:p.Gly254Ala
XM_011511811.1:c.881G>C	XP_011510113.1:p.Gly294Ala
XM_011511812.1:c.446G>C	XP_011510114.1:p.Gly149Ala
XR_923025.1:n.1092G>C
XM_017004893.1:c.881G>C	XP_016860382.1:p.Gly294Ala
XM_017004894.2:c.881G>C	XP_016860383.1:p.Gly294Ala
NM_024101.7:c.881G>C MANE Select	NP_077006.1:p.Gly294Ala
NM_001042467.3:c.881G>C	NP_001035932.1:p.Gly294Ala
NM_001281473.2:c.761G>C	NP_001268402.1:p.Gly254Ala
NM_001281474.2:c.675+7348G>C	NP_001268403.1:n.675+7348G>C
NR_104019.2:n.1092G>C