Canonical Allele Identifier: CA236136

Gene: MLPH

Linked Data

• ClinVar Variation Id: 191157
• ClinVar RCV Id: RCV000171341 ; RCV001283806
• dbSNP Id: rs786205551
• gnomAD v2: 2-238402173-G-A
• gnomAD v3: 2-237493530-G-A
• gnomAD v4: 2-237493530-G-A
• MyVariant Identifiers: chr2:g.238402173G>A (hg19) ; chr2:g.237493530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237493530G>A , CM000664.2:g.237493530G>A	GRCh38
NC_000002.11:g.238402173G>A , CM000664.1:g.238402173G>A	GRCh37
NC_000002.10:g.238066912G>A	NCBI36
NG_007286.1:g.11244G>A , LRG_83:g.11244G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264605.8:c.104G>A MANE Select	ENSP00000264605.3:p.Arg35Gln
ENST00000264605.7:c.104G>A	ENSP00000264605.3:p.Arg35Gln
ENST00000338530.8:c.104G>A	ENSP00000341845.4:p.Arg35Gln
ENST00000409373.5:c.104G>A	ENSP00000386780.1:p.Arg35Gln
ENST00000410032.5:c.104G>A	ENSP00000386338.1:p.Arg35Gln
ENST00000422695.5:c.104G>A	ENSP00000409170.1:p.Arg35Gln
ENST00000429898.5:c.104G>A	ENSP00000403909.1:p.Arg35Gln
ENST00000468178.5:n.315G>A
ENST00000469619.5:n.291G>A
ENST00000477222.5:n.315G>A
NM_001042467.2:c.104G>A	NP_001035932.1:p.Arg35Gln
NM_001281473.1:c.104G>A	NP_001268402.1:p.Arg35Gln
NM_001281474.1:c.104G>A	NP_001268403.1:p.Arg35Gln
NM_024101.6:c.104G>A	NP_077006.1:p.Arg35Gln
NR_104019.1:n.347G>A
XM_006712737.1:c.104G>A	XP_006712800.1:p.Arg35Gln
XM_006712739.1:c.104G>A	XP_006712802.1:p.Arg35Gln
XM_006712740.1:c.104G>A	XP_006712803.1:p.Arg35Gln
XM_011511811.1:c.104G>A	XP_011510113.1:p.Arg35Gln
XR_923025.1:n.315G>A
XM_017004893.1:c.104G>A	XP_016860382.1:p.Arg35Gln
XM_017004894.2:c.104G>A	XP_016860383.1:p.Arg35Gln
NM_024101.7:c.104G>A MANE Select	NP_077006.1:p.Arg35Gln
NM_001042467.3:c.104G>A	NP_001035932.1:p.Arg35Gln
NM_001281473.2:c.104G>A	NP_001268402.1:p.Arg35Gln
NM_001281474.2:c.104G>A	NP_001268403.1:p.Arg35Gln
NR_104019.2:n.315G>A