Canonical Allele Identifier: CA212982286

Gene: PDZD7

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101016407G>A , CM000672.2:g.101016407G>A	GRCh38
NC_000010.10:g.102776164G>A , CM000672.1:g.102776164G>A	GRCh37
NC_000010.9:g.102766154G>A	NCBI36
NG_028030.1:g.19751C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001195263.2:c.1543C>T MANE Select	NP_001182192.1:p.Gln515Ter
ENST00000619208.6:c.1543C>T MANE Select	ENSP00000480489.1:p.Gln515Ter
NM_001195263.1:c.1543C>T	NP_001182192.1:p.Gln515Ter
ENST00000433616.5:c.267C>T
ENST00000474125.6:c.*1700+1692C>T	ENSP00000474447.1:n.*1700+1692C>T
ENST00000474125.7:c.*1700+1692C>T	ENSP00000474447.1:n.*1700+1692C>T
ENST00000619208.4:c.1543C>T	ENSP00000480489.1:p.Gln515Ter
ENST00000644782.1:c.1522+1692C>T	ENSP00000496747.1:n.1522+1692C>T
XM_005270165.1:c.1522+1692C>T	XP_005270222.1:n.1522+1692C>T
XM_005270165.3:c.1522+1692C>T	XP_005270222.1:n.1522+1692C>T
XM_011540177.1:c.1543C>T	XP_011538479.1:p.Gln515Ter
XM_011540177.3:c.1543C>T	XP_011538479.1:p.Gln515Ter
XM_011540178.1:c.1540C>T	XP_011538480.1:p.Gln514Ter
XM_011540178.3:c.1540C>T	XP_011538480.1:p.Gln514Ter
XM_011540179.1:c.1543C>T	XP_011538481.1:p.Gln515Ter
XM_011540179.3:c.1543C>T	XP_011538481.1:p.Gln515Ter
XM_011540180.1:c.1571C>T	XP_011538482.1:p.Thr524Ile
XM_011540181.1:c.1543C>T	XP_011538483.1:p.Gln515Ter
XM_011540181.3:c.1543C>T	XP_011538483.1:p.Gln515Ter
XM_011540182.1:c.*1139C>T	XP_011538484.1:n.*1139C>T
XM_011540183.1:c.1571C>T	XP_011538485.1:p.Thr524Ile
XM_011540183.3:c.1571C>T	XP_011538485.1:p.Thr524Ile
XM_017016667.2:c.*1177C>T	XP_016872156.1:n.*1177C>T
XR_001747203.2:n.3137C>T
XR_945815.1:n.3007C>T
XR_945816.1:n.1798+1692C>T
XR_945816.3:n.1788+1692C>T