Canonical Allele Identifier: CA431686905

Gene: MLPH

Linked Data

• MyVariant Identifiers: chr2:g.238443236T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237534593T>C , CM000664.2:g.237534593T>C	GRCh38
NC_000002.11:g.238443236T>C , CM000664.1:g.238443236T>C	GRCh37
NC_000002.10:g.238107975T>C	NCBI36
NG_007286.1:g.52307T>C , LRG_83:g.52307T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264605.8:c.1050T>C MANE Select	ENSP00000264605.3:p.Ala350=
ENST00000264605.7:c.1050T>C	ENSP00000264605.3:p.Ala350=
ENST00000338530.8:c.1021-5755T>C	ENSP00000341845.4:n.1021-5755T>C
ENST00000409373.5:c.901-5755T>C	ENSP00000386780.1:n.901-5755T>C
ENST00000410032.5:c.676-5755T>C	ENSP00000386338.1:n.676-5755T>C
ENST00000415753.5:c.112T>C
ENST00000436965.5:c.267-5755T>C
ENST00000437893.5:c.330T>C	ENSP00000412438.1:p.Ala110=
ENST00000464123.5:n.1086-5755T>C
ENST00000468178.5:n.1232-5755T>C
ENST00000478712.5:n.700-5755T>C
ENST00000485956.1:n.426T>C
ENST00000494110.5:n.730T>C
ENST00000495439.5:n.1398-5755T>C
NM_001042467.2:c.1021-5755T>C	NP_001035932.1:n.1021-5755T>C
NM_001281473.1:c.901-5755T>C	NP_001268402.1:n.901-5755T>C
NM_001281474.1:c.676-5755T>C	NP_001268403.1:n.676-5755T>C
NM_024101.6:c.1050T>C	NP_077006.1:p.Ala350=
NR_104019.1:n.1293T>C
XM_006712737.1:c.930T>C	XP_006712800.1:p.Ala310=
XM_006712739.1:c.1050T>C	XP_006712802.1:p.Ala350=
XM_006712740.1:c.901-5755T>C	XP_006712803.1:n.901-5755T>C
XM_011511811.1:c.1050T>C	XP_011510113.1:p.Ala350=
XM_011511812.1:c.615T>C	XP_011510114.1:p.Ala205=
XR_923025.1:n.1232-5755T>C
XM_017004893.1:c.1050T>C	XP_016860382.1:p.Ala350=
XM_017004894.2:c.1021-5755T>C	XP_016860383.1:n.1021-5755T>C
NM_024101.7:c.1050T>C MANE Select	NP_077006.1:p.Ala350=
NM_001042467.3:c.1021-5755T>C	NP_001035932.1:n.1021-5755T>C
NM_001281473.2:c.901-5755T>C	NP_001268402.1:n.901-5755T>C
NM_001281474.2:c.676-5755T>C	NP_001268403.1:n.676-5755T>C
NR_104019.2:n.1261T>C