Canonical Allele Identifier: CA394373368

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2108633G>T , CM000678.2:g.2108633G>T	GRCh38
NC_000016.9:g.2158634G>T , CM000678.1:g.2158634G>T	GRCh37
NC_000016.8:g.2098635G>T	NCBI36
NG_008617.1:g.32266C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.6534C>A MANE Select	NP_001009944.3:p.Cys2178Ter
ENST00000262304.9:c.6534C>A MANE Select	ENSP00000262304.4:p.Cys2178Ter
NM_000296.3:c.6534C>A	NP_000287.3:p.Cys2178Ter
NM_000296.4:c.6534C>A	NP_000287.4:p.Cys2178Ter
NM_001009944.2:c.6534C>A	NP_001009944.2:p.Cys2178Ter
ENST00000262304.8:c.6534C>A	ENSP00000262304.4:p.Cys2178Ter
ENST00000415938.7:n.311-1685C>A
ENST00000423118.5:c.6534C>A	ENSP00000399501.1:p.Cys2178Ter
ENST00000483024.1:c.234-1685C>A
ENST00000483731.5:n.791-1685C>A
ENST00000487932.5:c.1221C>A	ENSP00000457132.1:p.Cys407Ter
ENST00000488185.2:c.473-275C>A
ENST00000565639.6:n.774-1685C>A
ENST00000568591.5:c.2227-1685C>A	ENSP00000457162.1:n.2227-1685C>A
ENST00000569983.5:n.422-1685C>A
XM_005255370.2:c.3489C>A	XP_005255427.1:p.Cys1163Ter
XM_005255370.3:c.3489C>A	XP_005255427.1:p.Cys1163Ter
XM_011522525.1:c.6612C>A	XP_011520827.1:p.Cys2204Ter
XM_011522526.1:c.6612C>A	XP_011520828.1:p.Cys2204Ter
XM_011522527.1:c.6612C>A	XP_011520829.1:p.Cys2204Ter
XM_011522528.1:c.6588C>A	XP_011520830.1:p.Cys2196Ter
XM_011522528.3:c.6588C>A	XP_011520830.1:p.Cys2196Ter
XM_011522529.1:c.6588C>A	XP_011520831.1:p.Cys2196Ter
XM_011522529.2:c.6588C>A	XP_011520831.1:p.Cys2196Ter
XM_011522530.1:c.6558C>A	XP_011520832.1:p.Cys2186Ter
XM_011522531.1:c.6540C>A	XP_011520833.1:p.Cys2180Ter
XM_011522532.1:c.6486C>A	XP_011520834.1:p.Cys2162Ter
XM_011522533.1:c.6405C>A	XP_011520835.1:p.Cys2135Ter
XM_011522534.1:c.6348C>A	XP_011520836.1:p.Cys2116Ter
XM_011522535.1:c.4434C>A	XP_011520837.1:p.Cys1478Ter
XM_011522536.1:c.6612C>A	XP_011520838.1:p.Cys2204Ter
XM_011522537.1:c.3612C>A	XP_011520839.1:p.Cys1204Ter
XM_011522537.2:c.3612C>A	XP_011520839.1:p.Cys1204Ter
XM_024450298.1:c.6654C>A	XP_024306066.1:p.Cys2218Ter
XM_024450299.1:c.6582C>A	XP_024306067.1:p.Cys2194Ter
XM_024450300.1:c.6444C>A	XP_024306068.1:p.Cys2148Ter
XM_024450301.1:c.4530C>A	XP_024306069.1:p.Cys1510Ter
XR_932867.1:n.6627C>A
XR_932868.1:n.6627C>A
XR_932869.1:n.6627C>A
XR_932870.1:n.6627C>A