Canonical Allele Identifier: CA351203564

Gene: MLPH

Linked Data

• dbSNP Id: rs2292884
• MyVariant Identifiers: chr2:g.238443226A>T (hg19) ; chr2:g.237534583A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237534583A>T , CM000664.2:g.237534583A>T	GRCh38
NC_000002.11:g.238443226A>T , CM000664.1:g.238443226A>T	GRCh37
NC_000002.10:g.238107965A>T	NCBI36
NG_007286.1:g.52297A>T , LRG_83:g.52297A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264605.8:c.1040A>T MANE Select	ENSP00000264605.3:p.His347Leu
ENST00000264605.7:c.1040A>T	ENSP00000264605.3:p.His347Leu
ENST00000338530.8:c.1021-5765A>T	ENSP00000341845.4:n.1021-5765A>T
ENST00000409373.5:c.901-5765A>T	ENSP00000386780.1:n.901-5765A>T
ENST00000410032.5:c.676-5765A>T	ENSP00000386338.1:n.676-5765A>T
ENST00000415753.5:c.102A>T
ENST00000436965.5:c.267-5765A>T
ENST00000437893.5:c.320A>T	ENSP00000412438.1:p.His107Leu
ENST00000464123.5:n.1086-5765A>T
ENST00000468178.5:n.1232-5765A>T
ENST00000478712.5:n.700-5765A>T
ENST00000485956.1:n.416A>T
ENST00000494110.5:n.720A>T
ENST00000495439.5:n.1398-5765A>T
NM_001042467.2:c.1021-5765A>T	NP_001035932.1:n.1021-5765A>T
NM_001281473.1:c.901-5765A>T	NP_001268402.1:n.901-5765A>T
NM_001281474.1:c.676-5765A>T	NP_001268403.1:n.676-5765A>T
NM_024101.6:c.1040A>T	NP_077006.1:p.His347Leu
NR_104019.1:n.1283A>T
XM_006712737.1:c.920A>T	XP_006712800.1:p.His307Leu
XM_006712739.1:c.1040A>T	XP_006712802.1:p.His347Leu
XM_006712740.1:c.901-5765A>T	XP_006712803.1:n.901-5765A>T
XM_011511811.1:c.1040A>T	XP_011510113.1:p.His347Leu
XM_011511812.1:c.605A>T	XP_011510114.1:p.His202Leu
XR_923025.1:n.1232-5765A>T
XM_017004893.1:c.1040A>T	XP_016860382.1:p.His347Leu
XM_017004894.2:c.1021-5765A>T	XP_016860383.1:n.1021-5765A>T
NM_024101.7:c.1040A>T MANE Select	NP_077006.1:p.His347Leu
NM_001042467.3:c.1021-5765A>T	NP_001035932.1:n.1021-5765A>T
NM_001281473.2:c.901-5765A>T	NP_001268402.1:n.901-5765A>T
NM_001281474.2:c.676-5765A>T	NP_001268403.1:n.676-5765A>T
NR_104019.2:n.1251A>T