Canonical Allele Identifier: CA394362570

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103412C>T , CM000678.2:g.2103412C>T	GRCh38
NC_000016.9:g.2153413C>T , CM000678.1:g.2153413C>T	GRCh37
NC_000016.8:g.2093414C>T	NCBI36
NG_008617.1:g.39809G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.8645G>A MANE Select	NP_001009944.3:p.Trp2882Ter
ENST00000262304.9:c.8645G>A MANE Select	ENSP00000262304.4:p.Trp2882Ter
NM_000296.3:c.8645G>A	NP_000287.3:p.Trp2882Ter
NM_000296.4:c.8645G>A	NP_000287.4:p.Trp2882Ter
NM_001009944.2:c.8645G>A	NP_001009944.2:p.Trp2882Ter
ENST00000262304.8:c.8645G>A	ENSP00000262304.4:p.Trp2882Ter
ENST00000415938.7:n.1870+20G>A
ENST00000423118.5:c.8645G>A	ENSP00000399501.1:p.Trp2882Ter
ENST00000471603.6:n.276G>A
ENST00000475889.1:n.100+20G>A
ENST00000480227.5:n.382G>A
ENST00000483731.5:n.2370G>A
ENST00000486339.6:n.2781G>A
ENST00000487932.5:c.3229-22G>A	ENSP00000457132.1:n.3229-22G>A
ENST00000496574.6:n.2881G>A
ENST00000562297.5:n.378G>A
ENST00000567946.1:c.393+313G>A
XM_005255370.2:c.5600G>A	XP_005255427.1:p.Trp1867Ter
XM_005255370.3:c.5600G>A	XP_005255427.1:p.Trp1867Ter
XM_011522525.1:c.8723G>A	XP_011520827.1:p.Trp2908Ter
XM_011522526.1:c.8723G>A	XP_011520828.1:p.Trp2908Ter
XM_011522527.1:c.8723G>A	XP_011520829.1:p.Trp2908Ter
XM_011522528.1:c.8699G>A	XP_011520830.1:p.Trp2900Ter
XM_011522528.3:c.8699G>A	XP_011520830.1:p.Trp2900Ter
XM_011522529.1:c.8699G>A	XP_011520831.1:p.Trp2900Ter
XM_011522529.2:c.8699G>A	XP_011520831.1:p.Trp2900Ter
XM_011522530.1:c.8669G>A	XP_011520832.1:p.Trp2890Ter
XM_011522531.1:c.8651G>A	XP_011520833.1:p.Trp2884Ter
XM_011522532.1:c.8597G>A	XP_011520834.1:p.Trp2866Ter
XM_011522533.1:c.8516G>A	XP_011520835.1:p.Trp2839Ter
XM_011522534.1:c.8459G>A	XP_011520836.1:p.Trp2820Ter
XM_011522535.1:c.6545G>A	XP_011520837.1:p.Trp2182Ter
XM_011522536.1:c.8723G>A	XP_011520838.1:p.Trp2908Ter
XM_011522537.1:c.5723G>A	XP_011520839.1:p.Trp1908Ter
XM_011522537.2:c.5723G>A	XP_011520839.1:p.Trp1908Ter
XM_024450298.1:c.8765G>A	XP_024306066.1:p.Trp2922Ter
XM_024450299.1:c.8693G>A	XP_024306067.1:p.Trp2898Ter
XM_024450300.1:c.8555G>A	XP_024306068.1:p.Trp2852Ter
XM_024450301.1:c.6641G>A	XP_024306069.1:p.Trp2214Ter
XR_932867.1:n.8738G>A
XR_932868.1:n.8738G>A
XR_932869.1:n.8738G>A
XR_932870.1:n.8738G>A