Canonical Allele Identifier: CA394382487

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111439C>T , CM000678.2:g.2111439C>T	GRCh38
NC_000016.9:g.2161440C>T , CM000678.1:g.2161440C>T	GRCh37
NC_000016.8:g.2101441C>T	NCBI36
NG_008617.1:g.29460G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.3728G>A MANE Select	NP_001009944.3:p.Trp1243Ter
ENST00000262304.9:c.3728G>A MANE Select	ENSP00000262304.4:p.Trp1243Ter
NM_000296.3:c.3728G>A	NP_000287.3:p.Trp1243Ter
NM_000296.4:c.3728G>A	NP_000287.4:p.Trp1243Ter
NM_001009944.2:c.3728G>A	NP_001009944.2:p.Trp1243Ter
ENST00000262304.8:c.3728G>A	ENSP00000262304.4:p.Trp1243Ter
ENST00000415938.7:n.310+901G>A
ENST00000423118.5:c.3728G>A	ENSP00000399501.1:p.Trp1243Ter
ENST00000468674.5:n.430+901G>A
ENST00000483024.1:c.233+377G>A
ENST00000483731.5:n.790+901G>A
ENST00000488185.2:c.473-3081G>A
ENST00000565639.6:n.773+901G>A
ENST00000568591.5:c.2226+901G>A	ENSP00000457162.1:n.2226+901G>A
ENST00000569983.5:n.421+901G>A
XM_005255370.2:c.683G>A	XP_005255427.1:p.Trp228Ter
XM_005255370.3:c.683G>A	XP_005255427.1:p.Trp228Ter
XM_011522525.1:c.3806G>A	XP_011520827.1:p.Trp1269Ter
XM_011522526.1:c.3806G>A	XP_011520828.1:p.Trp1269Ter
XM_011522527.1:c.3806G>A	XP_011520829.1:p.Trp1269Ter
XM_011522528.1:c.3782G>A	XP_011520830.1:p.Trp1261Ter
XM_011522528.3:c.3782G>A	XP_011520830.1:p.Trp1261Ter
XM_011522529.1:c.3782G>A	XP_011520831.1:p.Trp1261Ter
XM_011522529.2:c.3782G>A	XP_011520831.1:p.Trp1261Ter
XM_011522530.1:c.3752G>A	XP_011520832.1:p.Trp1251Ter
XM_011522531.1:c.3734G>A	XP_011520833.1:p.Trp1245Ter
XM_011522532.1:c.3680G>A	XP_011520834.1:p.Trp1227Ter
XM_011522533.1:c.3599G>A	XP_011520835.1:p.Trp1200Ter
XM_011522534.1:c.3542G>A	XP_011520836.1:p.Trp1181Ter
XM_011522535.1:c.1628G>A	XP_011520837.1:p.Trp543Ter
XM_011522536.1:c.3806G>A	XP_011520838.1:p.Trp1269Ter
XM_011522537.1:c.806G>A	XP_011520839.1:p.Trp269Ter
XM_011522537.2:c.806G>A	XP_011520839.1:p.Trp269Ter
XM_024450298.1:c.3848G>A	XP_024306066.1:p.Trp1283Ter
XM_024450299.1:c.3776G>A	XP_024306067.1:p.Trp1259Ter
XM_024450300.1:c.3638G>A	XP_024306068.1:p.Trp1213Ter
XM_024450301.1:c.1724G>A	XP_024306069.1:p.Trp575Ter
XR_932867.1:n.3821G>A
XR_932868.1:n.3821G>A
XR_932869.1:n.3821G>A
XR_932870.1:n.3821G>A