Canonical Allele Identifier: CA397842122

Gene: MPDU1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7587438C>G , CM000679.2:g.7587438C>G	GRCh38
NC_000017.10:g.7490756C>G , CM000679.1:g.7490756C>G	GRCh37
NC_000017.9:g.7431480C>G	NCBI36
NG_009204.1:g.8792C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000250124.11:c.631C>G MANE Select	ENSP00000250124.6:p.Pro211Ala
ENST00000250124.10:c.631C>G	ENSP00000250124.6:p.Pro211Ala
ENST00000359822.10:c.*382C>G	ENSP00000352876.6:n.*382C>G
ENST00000396501.8:c.573C>G	ENSP00000379758.4:p.Ile191Met
ENST00000423172.6:c.532+167C>G	ENSP00000414071.2:n.532+167C>G
ENST00000570458.5:c.487C>G
ENST00000571822.5:c.*440C>G	ENSP00000458741.1:n.*440C>G
ENST00000571877.1:n.816C>G
ENST00000572719.5:c.*337C>G	ENSP00000459498.1:n.*337C>G
ENST00000572836.5:n.785C>G
ENST00000572936.5:c.*476C>G	ENSP00000459306.1:n.*476C>G
ENST00000574558.1:c.400C>G
ENST00000576272.5:c.604C>G
ENST00000577088.5:n.906C>G
ENST00000580834.5:c.*337C>G	ENSP00000463056.1:n.*337C>G
ENST00000581886.5:n.767C>G
ENST00000584378.5:c.413+167C>G	ENSP00000462839.1:n.413+167C>G
ENST00000585217.5:c.346-657C>G	ENSP00000463037.1:n.346-657C>G
ENST00000614740.4:c.629C>G	ENSP00000483943.1:p.Ser210Cys
ENST00000620608.4:c.630C>G	ENSP00000483915.1:p.Ile210Met
ENST00000621041.4:c.629C>G	ENSP00000479257.1:p.Ser210Cys
NM_004870.3:c.631C>G	NP_004861.2:p.Pro211Ala
NR_024603.1:n.842C>G
XM_006721597.1:c.512C>G	XP_006721660.1:p.Ser171Cys
XM_006721598.1:c.774C>G	XP_006721661.1:p.Ile258Met
XM_006721599.1:c.573C>G	XP_006721662.1:p.Ile191Met
XM_011524081.1:c.304C>G	XP_011522383.1:p.Pro102Ala
NM_001330073.1:c.573C>G	NP_001317002.1:p.Ile191Met
XM_006721597.2:c.512C>G	XP_006721660.1:p.Ser171Cys
XM_006721598.3:c.774C>G	XP_006721661.1:p.Ile258Met
XM_011524081.2:c.304C>G	XP_011522383.1:p.Pro102Ala
XM_024451040.1:c.304C>G	XP_024306808.1:p.Pro102Ala
NM_004870.4:c.631C>G MANE Select	NP_004861.2:p.Pro211Ala