Canonical Allele Identifier: CA540451644

Gene: MLPH

Linked Data

• dbSNP Id: rs116619661
• gnomAD v2: 2-238434621-G-T
• gnomAD v3: 2-237525978-G-T
• gnomAD v4: 2-237525978-G-T
• MyVariant Identifiers: chr2:g.238434621G>T (hg19) ; chr2:g.237525978G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237525978G>T , CM000664.2:g.237525978G>T	GRCh38
NC_000002.11:g.238434621G>T , CM000664.1:g.238434621G>T	GRCh37
NC_000002.10:g.238099360G>T	NCBI36
NG_007286.1:g.43692G>T , LRG_83:g.43692G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264605.8:c.880+173G>T MANE Select	ENSP00000264605.3:n.880+173G>T
ENST00000264605.7:c.880+173G>T	ENSP00000264605.3:n.880+173G>T
ENST00000338530.8:c.880+173G>T	ENSP00000341845.4:n.880+173G>T
ENST00000409373.5:c.760+173G>T	ENSP00000386780.1:n.760+173G>T
ENST00000410032.5:c.675+5949G>T	ENSP00000386338.1:n.675+5949G>T
ENST00000436965.5:c.78+173G>T
ENST00000437893.5:c.300+173G>T	ENSP00000412438.1:n.300+173G>T
ENST00000464123.5:n.945+173G>T
ENST00000468178.5:n.1091+173G>T
ENST00000478712.5:n.559+173G>T
ENST00000482528.1:n.132+173G>T
ENST00000485956.1:n.256+173G>T
ENST00000494110.5:n.560+173G>T
ENST00000495439.5:n.1257+173G>T
NM_001042467.2:c.880+173G>T	NP_001035932.1:n.880+173G>T
NM_001281473.1:c.760+173G>T	NP_001268402.1:n.760+173G>T
NM_001281474.1:c.675+5949G>T	NP_001268403.1:n.675+5949G>T
NM_024101.6:c.880+173G>T	NP_077006.1:n.880+173G>T
NR_104019.1:n.1123+173G>T
XM_006712737.1:c.760+173G>T	XP_006712800.1:n.760+173G>T
XM_006712739.1:c.880+173G>T	XP_006712802.1:n.880+173G>T
XM_006712740.1:c.760+173G>T	XP_006712803.1:n.760+173G>T
XM_011511811.1:c.880+173G>T	XP_011510113.1:n.880+173G>T
XM_011511812.1:c.445+173G>T	XP_011510114.1:n.445+173G>T
XR_923025.1:n.1091+173G>T
XM_017004893.1:c.880+173G>T	XP_016860382.1:n.880+173G>T
XM_017004894.2:c.880+173G>T	XP_016860383.1:n.880+173G>T
NM_024101.7:c.880+173G>T MANE Select	NP_077006.1:n.880+173G>T
NM_001042467.3:c.880+173G>T	NP_001035932.1:n.880+173G>T
NM_001281473.2:c.760+173G>T	NP_001268402.1:n.760+173G>T
NM_001281474.2:c.675+5949G>T	NP_001268403.1:n.675+5949G>T
NR_104019.2:n.1091+173G>T