Canonical Allele Identifier: CA8353010

Gene: MPDU1

Linked Data

• ClinVar Variation Id: 387361
• ClinVar RCV Id: RCV001126380 ; RCV001712275
• dbSNP Id: rs11078699
• ExAC: 17:7490603 C / T
• gnomAD v2: 17-7490603-C-T
• gnomAD v3: 17-7587285-C-T
• gnomAD v4: 17-7587285-C-T
• MyVariant Identifiers: chr17:g.7490603C>T (hg19) ; chr17:g.7587285C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7587285C>T , CM000679.2:g.7587285C>T	GRCh38
NC_000017.10:g.7490603C>T , CM000679.1:g.7490603C>T	GRCh37
NC_000017.9:g.7431327C>T	NCBI36
NG_009204.1:g.8639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000250124.11:c.618+14C>T MANE Select	ENSP00000250124.6:n.618+14C>T
ENST00000250124.10:c.618+14C>T	ENSP00000250124.6:n.618+14C>T
ENST00000359822.10:c.*369+14C>T	ENSP00000352876.6:n.*369+14C>T
ENST00000396501.8:c.560+14C>T	ENSP00000379758.4:n.560+14C>T
ENST00000423172.6:c.532+14C>T	ENSP00000414071.2:n.532+14C>T
ENST00000570458.5:c.474+14C>T
ENST00000571822.5:c.*427+14C>T	ENSP00000458741.1:n.*427+14C>T
ENST00000571877.1:n.803+14C>T
ENST00000572719.5:c.*324+14C>T	ENSP00000459498.1:n.*324+14C>T
ENST00000572836.5:n.772+14C>T
ENST00000572936.5:c.*463+14C>T	ENSP00000459306.1:n.*463+14C>T
ENST00000574558.1:c.387+14C>T
ENST00000576272.5:c.591+14C>T
ENST00000577088.5:n.893+14C>T
ENST00000580834.5:c.*324+14C>T	ENSP00000463056.1:n.*324+14C>T
ENST00000581886.5:n.754+14C>T
ENST00000584378.5:c.413+14C>T	ENSP00000462839.1:n.413+14C>T
ENST00000585217.5:c.345+539C>T	ENSP00000463037.1:n.345+539C>T
ENST00000614740.4:c.616+14C>T	ENSP00000483943.1:n.616+14C>T
ENST00000620608.4:c.617+14C>T	ENSP00000483915.1:n.617+14C>T
ENST00000621041.4:c.616+14C>T	ENSP00000479257.1:n.616+14C>T
NM_004870.3:c.618+14C>T	NP_004861.2:n.618+14C>T
NR_024603.1:n.829+14C>T
XM_006721597.1:c.499+14C>T	XP_006721660.1:n.499+14C>T
XM_006721598.1:c.761+14C>T	XP_006721661.1:n.761+14C>T
XM_006721599.1:c.560+14C>T	XP_006721662.1:n.560+14C>T
XM_011524081.1:c.291+14C>T	XP_011522383.1:n.291+14C>T
NM_001330073.1:c.560+14C>T	NP_001317002.1:n.560+14C>T
XM_006721597.2:c.499+14C>T	XP_006721660.1:n.499+14C>T
XM_006721598.3:c.761+14C>T	XP_006721661.1:n.761+14C>T
XM_011524081.2:c.291+14C>T	XP_011522383.1:n.291+14C>T
XM_024451040.1:c.291+14C>T	XP_024306808.1:n.291+14C>T
NM_004870.4:c.618+14C>T MANE Select	NP_004861.2:n.618+14C>T