Canonical Allele Identifier: CA2190430

Gene: MLPH

Linked Data

• dbSNP Id: rs113169138
• ExAC: 2:238436131 G / T
• gnomAD v2: 2-238436131-G-T
• gnomAD v3: 2-237527488-G-T
• gnomAD v4: 2-237527488-G-T
• MyVariant Identifiers: chr2:g.238436131G>T (hg19) ; chr2:g.237527488G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237527488G>T , CM000664.2:g.237527488G>T	GRCh38
NC_000002.11:g.238436131G>T , CM000664.1:g.238436131G>T	GRCh37
NC_000002.10:g.238100870G>T	NCBI36
NG_007286.1:g.45202G>T , LRG_83:g.45202G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264605.8:c.992G>T MANE Select	ENSP00000264605.3:p.Arg331Leu
ENST00000264605.7:c.992G>T	ENSP00000264605.3:p.Arg331Leu
ENST00000338530.8:c.992G>T	ENSP00000341845.4:p.Arg331Leu
ENST00000409373.5:c.872G>T	ENSP00000386780.1:p.Arg291Leu
ENST00000410032.5:c.675+7459G>T	ENSP00000386338.1:n.675+7459G>T
ENST00000415753.5:c.54G>T
ENST00000436965.5:c.238G>T
ENST00000437893.5:c.300+1683G>T	ENSP00000412438.1:n.300+1683G>T
ENST00000464123.5:n.1057G>T
ENST00000468178.5:n.1203G>T
ENST00000478712.5:n.671G>T
ENST00000482528.1:n.244G>T
ENST00000485956.1:n.368G>T
ENST00000494110.5:n.672G>T
ENST00000495439.5:n.1369G>T
NM_001042467.2:c.992G>T	NP_001035932.1:p.Arg331Leu
NM_001281473.1:c.872G>T	NP_001268402.1:p.Arg291Leu
NM_001281474.1:c.675+7459G>T	NP_001268403.1:n.675+7459G>T
NM_024101.6:c.992G>T	NP_077006.1:p.Arg331Leu
NR_104019.1:n.1235G>T
XM_006712737.1:c.872G>T	XP_006712800.1:p.Arg291Leu
XM_006712739.1:c.992G>T	XP_006712802.1:p.Arg331Leu
XM_006712740.1:c.872G>T	XP_006712803.1:p.Arg291Leu
XM_011511811.1:c.992G>T	XP_011510113.1:p.Arg331Leu
XM_011511812.1:c.557G>T	XP_011510114.1:p.Arg186Leu
XR_923025.1:n.1203G>T
XM_017004893.1:c.992G>T	XP_016860382.1:p.Arg331Leu
XM_017004894.2:c.992G>T	XP_016860383.1:p.Arg331Leu
NM_024101.7:c.992G>T MANE Select	NP_077006.1:p.Arg331Leu
NM_001042467.3:c.992G>T	NP_001035932.1:p.Arg331Leu
NM_001281473.2:c.872G>T	NP_001268402.1:p.Arg291Leu
NM_001281474.2:c.675+7459G>T	NP_001268403.1:n.675+7459G>T
NR_104019.2:n.1203G>T