Canonical Allele Identifier: CA2190408

Gene: MLPH

Linked Data

• ClinVar Variation Id: 2276037
• ClinVar RCV Id: RCV002822635
• dbSNP Id: rs747284515
• ExAC: 2:238436064 G / C
• gnomAD v2: 2-238436064-G-C
• gnomAD v4: 2-237527421-G-C
• MyVariant Identifiers: chr2:g.238436064G>C (hg19) ; chr2:g.237527421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237527421G>C , CM000664.2:g.237527421G>C	GRCh38
NC_000002.11:g.238436064G>C , CM000664.1:g.238436064G>C	GRCh37
NC_000002.10:g.238100803G>C	NCBI36
NG_007286.1:g.45135G>C , LRG_83:g.45135G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264605.8:c.925G>C MANE Select	ENSP00000264605.3:p.Ala309Pro
ENST00000264605.7:c.925G>C	ENSP00000264605.3:p.Ala309Pro
ENST00000338530.8:c.925G>C	ENSP00000341845.4:p.Ala309Pro
ENST00000409373.5:c.805G>C	ENSP00000386780.1:p.Ala269Pro
ENST00000410032.5:c.675+7392G>C	ENSP00000386338.1:n.675+7392G>C
ENST00000436965.5:c.171G>C
ENST00000437893.5:c.300+1616G>C	ENSP00000412438.1:n.300+1616G>C
ENST00000464123.5:n.990G>C
ENST00000468178.5:n.1136G>C
ENST00000478712.5:n.604G>C
ENST00000482528.1:n.177G>C
ENST00000485956.1:n.301G>C
ENST00000494110.5:n.605G>C
ENST00000495439.5:n.1302G>C
NM_001042467.2:c.925G>C	NP_001035932.1:p.Ala309Pro
NM_001281473.1:c.805G>C	NP_001268402.1:p.Ala269Pro
NM_001281474.1:c.675+7392G>C	NP_001268403.1:n.675+7392G>C
NM_024101.6:c.925G>C	NP_077006.1:p.Ala309Pro
NR_104019.1:n.1168G>C
XM_006712737.1:c.805G>C	XP_006712800.1:p.Ala269Pro
XM_006712739.1:c.925G>C	XP_006712802.1:p.Ala309Pro
XM_006712740.1:c.805G>C	XP_006712803.1:p.Ala269Pro
XM_011511811.1:c.925G>C	XP_011510113.1:p.Ala309Pro
XM_011511812.1:c.490G>C	XP_011510114.1:p.Ala164Pro
XR_923025.1:n.1136G>C
XM_017004893.1:c.925G>C	XP_016860382.1:p.Ala309Pro
XM_017004894.2:c.925G>C	XP_016860383.1:p.Ala309Pro
NM_024101.7:c.925G>C MANE Select	NP_077006.1:p.Ala309Pro
NM_001042467.3:c.925G>C	NP_001035932.1:p.Ala309Pro
NM_001281473.2:c.805G>C	NP_001268402.1:p.Ala269Pro
NM_001281474.2:c.675+7392G>C	NP_001268403.1:n.675+7392G>C
NR_104019.2:n.1136G>C