Canonical Allele Identifier: CA431686761

Gene: MLPH

Linked Data

• MyVariant Identifiers: chr2:g.238436126C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237527483C>G , CM000664.2:g.237527483C>G	GRCh38
NC_000002.11:g.238436126C>G , CM000664.1:g.238436126C>G	GRCh37
NC_000002.10:g.238100865C>G	NCBI36
NG_007286.1:g.45197C>G , LRG_83:g.45197C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264605.8:c.987C>G MANE Select	ENSP00000264605.3:p.Ser329=
ENST00000264605.7:c.987C>G	ENSP00000264605.3:p.Ser329=
ENST00000338530.8:c.987C>G	ENSP00000341845.4:p.Ser329=
ENST00000409373.5:c.867C>G	ENSP00000386780.1:p.Ser289=
ENST00000410032.5:c.675+7454C>G	ENSP00000386338.1:n.675+7454C>G
ENST00000415753.5:c.49C>G
ENST00000436965.5:c.233C>G
ENST00000437893.5:c.300+1678C>G	ENSP00000412438.1:n.300+1678C>G
ENST00000464123.5:n.1052C>G
ENST00000468178.5:n.1198C>G
ENST00000478712.5:n.666C>G
ENST00000482528.1:n.239C>G
ENST00000485956.1:n.363C>G
ENST00000494110.5:n.667C>G
ENST00000495439.5:n.1364C>G
NM_001042467.2:c.987C>G	NP_001035932.1:p.Ser329=
NM_001281473.1:c.867C>G	NP_001268402.1:p.Ser289=
NM_001281474.1:c.675+7454C>G	NP_001268403.1:n.675+7454C>G
NM_024101.6:c.987C>G	NP_077006.1:p.Ser329=
NR_104019.1:n.1230C>G
XM_006712737.1:c.867C>G	XP_006712800.1:p.Ser289=
XM_006712739.1:c.987C>G	XP_006712802.1:p.Ser329=
XM_006712740.1:c.867C>G	XP_006712803.1:p.Ser289=
XM_011511811.1:c.987C>G	XP_011510113.1:p.Ser329=
XM_011511812.1:c.552C>G	XP_011510114.1:p.Ser184=
XR_923025.1:n.1198C>G
XM_017004893.1:c.987C>G	XP_016860382.1:p.Ser329=
XM_017004894.2:c.987C>G	XP_016860383.1:p.Ser329=
NM_024101.7:c.987C>G MANE Select	NP_077006.1:p.Ser329=
NM_001042467.3:c.987C>G	NP_001035932.1:p.Ser329=
NM_001281473.2:c.867C>G	NP_001268402.1:p.Ser289=
NM_001281474.2:c.675+7454C>G	NP_001268403.1:n.675+7454C>G
NR_104019.2:n.1198C>G