Canonical Allele Identifier: CA351200880

Gene: MLPH

Linked Data

• gnomAD v4: 2-237527485-A-T
• MyVariant Identifiers: chr2:g.238436128A>T (hg19) ; chr2:g.237527485A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237527485A>T , CM000664.2:g.237527485A>T	GRCh38
NC_000002.11:g.238436128A>T , CM000664.1:g.238436128A>T	GRCh37
NC_000002.10:g.238100867A>T	NCBI36
NG_007286.1:g.45199A>T , LRG_83:g.45199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264605.8:c.989A>T MANE Select	ENSP00000264605.3:p.Lys330Met
ENST00000264605.7:c.989A>T	ENSP00000264605.3:p.Lys330Met
ENST00000338530.8:c.989A>T	ENSP00000341845.4:p.Lys330Met
ENST00000409373.5:c.869A>T	ENSP00000386780.1:p.Lys290Met
ENST00000410032.5:c.675+7456A>T	ENSP00000386338.1:n.675+7456A>T
ENST00000415753.5:c.51A>T
ENST00000436965.5:c.235A>T
ENST00000437893.5:c.300+1680A>T	ENSP00000412438.1:n.300+1680A>T
ENST00000464123.5:n.1054A>T
ENST00000468178.5:n.1200A>T
ENST00000478712.5:n.668A>T
ENST00000482528.1:n.241A>T
ENST00000485956.1:n.365A>T
ENST00000494110.5:n.669A>T
ENST00000495439.5:n.1366A>T
NM_001042467.2:c.989A>T	NP_001035932.1:p.Lys330Met
NM_001281473.1:c.869A>T	NP_001268402.1:p.Lys290Met
NM_001281474.1:c.675+7456A>T	NP_001268403.1:n.675+7456A>T
NM_024101.6:c.989A>T	NP_077006.1:p.Lys330Met
NR_104019.1:n.1232A>T
XM_006712737.1:c.869A>T	XP_006712800.1:p.Lys290Met
XM_006712739.1:c.989A>T	XP_006712802.1:p.Lys330Met
XM_006712740.1:c.869A>T	XP_006712803.1:p.Lys290Met
XM_011511811.1:c.989A>T	XP_011510113.1:p.Lys330Met
XM_011511812.1:c.554A>T	XP_011510114.1:p.Lys185Met
XR_923025.1:n.1200A>T
XM_017004893.1:c.989A>T	XP_016860382.1:p.Lys330Met
XM_017004894.2:c.989A>T	XP_016860383.1:p.Lys330Met
NM_024101.7:c.989A>T MANE Select	NP_077006.1:p.Lys330Met
NM_001042467.3:c.989A>T	NP_001035932.1:p.Lys330Met
NM_001281473.2:c.869A>T	NP_001268402.1:p.Lys290Met
NM_001281474.2:c.675+7456A>T	NP_001268403.1:n.675+7456A>T
NR_104019.2:n.1200A>T