Canonical Allele Identifier: CA2190431

Gene: MLPH

Linked Data

• dbSNP Id: rs749267906
• ExAC: 2:238436139 C / T
• gnomAD v2: 2-238436139-C-T
• gnomAD v4: 2-237527496-C-T
• MyVariant Identifiers: chr2:g.238436139C>T (hg19) ; chr2:g.237527496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237527496C>T , CM000664.2:g.237527496C>T	GRCh38
NC_000002.11:g.238436139C>T , CM000664.1:g.238436139C>T	GRCh37
NC_000002.10:g.238100878C>T	NCBI36
NG_007286.1:g.45210C>T , LRG_83:g.45210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264605.8:c.1000C>T MANE Select	ENSP00000264605.3:p.Arg334Trp
ENST00000264605.7:c.1000C>T	ENSP00000264605.3:p.Arg334Trp
ENST00000338530.8:c.1000C>T	ENSP00000341845.4:p.Arg334Trp
ENST00000409373.5:c.880C>T	ENSP00000386780.1:p.Arg294Trp
ENST00000410032.5:c.675+7467C>T	ENSP00000386338.1:n.675+7467C>T
ENST00000415753.5:c.62C>T
ENST00000436965.5:c.246C>T
ENST00000437893.5:c.300+1691C>T	ENSP00000412438.1:n.300+1691C>T
ENST00000464123.5:n.1065C>T
ENST00000468178.5:n.1211C>T
ENST00000478712.5:n.679C>T
ENST00000482528.1:n.252C>T
ENST00000485956.1:n.376C>T
ENST00000494110.5:n.680C>T
ENST00000495439.5:n.1377C>T
NM_001042467.2:c.1000C>T	NP_001035932.1:p.Arg334Trp
NM_001281473.1:c.880C>T	NP_001268402.1:p.Arg294Trp
NM_001281474.1:c.675+7467C>T	NP_001268403.1:n.675+7467C>T
NM_024101.6:c.1000C>T	NP_077006.1:p.Arg334Trp
NR_104019.1:n.1243C>T
XM_006712737.1:c.880C>T	XP_006712800.1:p.Arg294Trp
XM_006712739.1:c.1000C>T	XP_006712802.1:p.Arg334Trp
XM_006712740.1:c.880C>T	XP_006712803.1:p.Arg294Trp
XM_011511811.1:c.1000C>T	XP_011510113.1:p.Arg334Trp
XM_011511812.1:c.565C>T	XP_011510114.1:p.Arg189Trp
XR_923025.1:n.1211C>T
XM_017004893.1:c.1000C>T	XP_016860382.1:p.Arg334Trp
XM_017004894.2:c.1000C>T	XP_016860383.1:p.Arg334Trp
NM_024101.7:c.1000C>T MANE Select	NP_077006.1:p.Arg334Trp
NM_001042467.3:c.1000C>T	NP_001035932.1:p.Arg334Trp
NM_001281473.2:c.880C>T	NP_001268402.1:p.Arg294Trp
NM_001281474.2:c.675+7467C>T	NP_001268403.1:n.675+7467C>T
NR_104019.2:n.1211C>T