Canonical Allele Identifier: CA372945538

Gene: MPDZ

Linked Data

• gnomAD v4: 9-13219596-G-T
• MyVariant Identifiers: chr9:g.13219595G>T (hg19) ; chr9:g.13219596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.13219596G>T , CM000671.2:g.13219596G>T	GRCh38
NC_000009.11:g.13219595G>T , CM000671.1:g.13219595G>T	GRCh37
NC_000009.10:g.13209595G>T	NCBI36
NG_042810.1:g.64969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319217.12:c.1049C>A MANE Select	ENSP00000320006.7:p.Thr350Asn
ENST00000447879.6:c.1049C>A	ENSP00000415208.1:p.Thr350Asn
ENST00000319217.11:c.1049C>A	ENSP00000320006.7:p.Thr350Asn
ENST00000381022.6:c.1049C>A	ENSP00000370410.3:p.Thr350Asn
ENST00000447879.5:c.1049C>A	ENSP00000415208.1:p.Thr350Asn
ENST00000494251.1:c.43+60C>A
ENST00000536827.5:c.1049C>A	ENSP00000444151.1:p.Thr350Asn
ENST00000541718.5:c.1049C>A	ENSP00000439807.1:p.Thr350Asn
ENST00000546205.5:c.1049C>A	ENSP00000446358.1:p.Thr350Asn
NM_001261406.1:c.1049C>A	NP_001248335.1:p.Thr350Asn
NM_001261407.1:c.1049C>A	NP_001248336.1:p.Thr350Asn
NM_003829.4:c.1049C>A	NP_003820.2:p.Thr350Asn
XM_005251622.3:c.1049C>A	XP_005251679.1:p.Thr350Asn
XM_005251623.3:c.1049C>A	XP_005251680.1:p.Thr350Asn
XM_006716885.2:c.1049C>A	XP_006716948.1:p.Thr350Asn
XM_006716886.2:c.1049C>A	XP_006716949.1:p.Thr350Asn
XM_006716887.2:c.1049C>A	XP_006716950.1:p.Thr350Asn
XM_006716888.2:c.1049C>A	XP_006716951.1:p.Thr350Asn
XM_006716889.2:c.1049C>A	XP_006716952.1:p.Thr350Asn
XM_006716890.2:c.1049C>A	XP_006716953.1:p.Thr350Asn
XM_006716891.2:c.1049C>A	XP_006716954.1:p.Thr350Asn
NM_001330637.1:c.1049C>A	NP_001317566.1:p.Thr350Asn
XM_005251623.4:c.1049C>A	XP_005251680.1:p.Thr350Asn
XM_006716885.3:c.1049C>A	XP_006716948.1:p.Thr350Asn
XM_006716886.3:c.1049C>A	XP_006716949.1:p.Thr350Asn
XM_006716887.4:c.1049C>A	XP_006716950.1:p.Thr350Asn
XM_006716888.3:c.1049C>A	XP_006716951.1:p.Thr350Asn
XM_006716889.3:c.1049C>A	XP_006716952.1:p.Thr350Asn
XM_006716891.3:c.1049C>A	XP_006716954.1:p.Thr350Asn
XM_017015252.1:c.1049C>A	XP_016870741.1:p.Thr350Asn
XM_017015253.1:c.1049C>A	XP_016870742.1:p.Thr350Asn
XM_017015254.1:c.1049C>A	XP_016870743.1:p.Thr350Asn
XM_017015255.1:c.1049C>A	XP_016870744.1:p.Thr350Asn
XM_017015256.1:c.1049C>A	XP_016870745.1:p.Thr350Asn
XM_017015257.1:c.1049C>A	XP_016870746.1:p.Thr350Asn
XM_017015258.1:c.1049C>A	XP_016870747.1:p.Thr350Asn
XM_017015259.1:c.1049C>A	XP_016870748.1:p.Thr350Asn
XM_024447708.1:c.1049C>A	XP_024303476.1:p.Thr350Asn
XR_002956817.1:n.1220C>A
NM_001261406.2:c.1049C>A	NP_001248335.1:p.Thr350Asn
NM_001261407.2:c.1049C>A	NP_001248336.1:p.Thr350Asn
NM_001330637.2:c.1049C>A	NP_001317566.1:p.Thr350Asn
NM_001375413.1:c.1049C>A	NP_001362342.1:p.Thr350Asn
NM_001375416.1:c.1049C>A	NP_001362345.1:p.Thr350Asn
NM_001375417.1:c.1049C>A	NP_001362346.1:p.Thr350Asn
NM_001375418.1:c.1049C>A	NP_001362347.1:p.Thr350Asn
NM_001375419.1:c.1049C>A	NP_001362348.1:p.Thr350Asn
NM_001375420.1:c.1049C>A	NP_001362349.1:p.Thr350Asn
NM_001375421.1:c.1049C>A	NP_001362350.1:p.Thr350Asn
NM_001375422.1:c.1049C>A	NP_001362351.1:p.Thr350Asn
NM_001375423.1:c.1049C>A	NP_001362352.1:p.Thr350Asn
NM_001375424.1:c.1049C>A	NP_001362353.1:p.Thr350Asn
NM_001375425.1:c.1049C>A	NP_001362354.1:p.Thr350Asn
NM_001375426.1:c.1049C>A	NP_001362355.1:p.Thr350Asn
NM_001375427.1:c.1049C>A	NP_001362356.1:p.Thr350Asn
NM_003829.5:c.1049C>A	NP_003820.2:p.Thr350Asn
NM_001378778.1:c.1049C>A MANE Select	NP_001365707.1:p.Thr350Asn