Canonical Allele Identifier: CA394375927

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109488C>T , CM000678.2:g.2109488C>T	GRCh38
NC_000016.9:g.2159489C>T , CM000678.1:g.2159489C>T	GRCh37
NC_000016.8:g.2099490C>T	NCBI36
NG_008617.1:g.31411G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.5679G>A MANE Select	NP_001009944.3:p.Trp1893Ter
ENST00000262304.9:c.5679G>A MANE Select	ENSP00000262304.4:p.Trp1893Ter
NM_000296.3:c.5679G>A	NP_000287.3:p.Trp1893Ter
NM_000296.4:c.5679G>A	NP_000287.4:p.Trp1893Ter
NM_001009944.2:c.5679G>A	NP_001009944.2:p.Trp1893Ter
ENST00000262304.8:c.5679G>A	ENSP00000262304.4:p.Trp1893Ter
ENST00000415938.7:n.311-2540G>A
ENST00000423118.5:c.5679G>A	ENSP00000399501.1:p.Trp1893Ter
ENST00000468674.5:n.431-138G>A
ENST00000483024.1:c.233+2328G>A
ENST00000483731.5:n.791-2540G>A
ENST00000487932.5:c.366G>A	ENSP00000457132.1:p.Trp122Ter
ENST00000488185.2:c.473-1130G>A
ENST00000565639.6:n.774-2540G>A
ENST00000568591.5:c.2227-2540G>A	ENSP00000457162.1:n.2227-2540G>A
ENST00000569983.5:n.422-2540G>A
XM_005255370.2:c.2634G>A	XP_005255427.1:p.Trp878Ter
XM_005255370.3:c.2634G>A	XP_005255427.1:p.Trp878Ter
XM_011522525.1:c.5757G>A	XP_011520827.1:p.Trp1919Ter
XM_011522526.1:c.5757G>A	XP_011520828.1:p.Trp1919Ter
XM_011522527.1:c.5757G>A	XP_011520829.1:p.Trp1919Ter
XM_011522528.1:c.5733G>A	XP_011520830.1:p.Trp1911Ter
XM_011522528.3:c.5733G>A	XP_011520830.1:p.Trp1911Ter
XM_011522529.1:c.5733G>A	XP_011520831.1:p.Trp1911Ter
XM_011522529.2:c.5733G>A	XP_011520831.1:p.Trp1911Ter
XM_011522530.1:c.5703G>A	XP_011520832.1:p.Trp1901Ter
XM_011522531.1:c.5685G>A	XP_011520833.1:p.Trp1895Ter
XM_011522532.1:c.5631G>A	XP_011520834.1:p.Trp1877Ter
XM_011522533.1:c.5550G>A	XP_011520835.1:p.Trp1850Ter
XM_011522534.1:c.5493G>A	XP_011520836.1:p.Trp1831Ter
XM_011522535.1:c.3579G>A	XP_011520837.1:p.Trp1193Ter
XM_011522536.1:c.5757G>A	XP_011520838.1:p.Trp1919Ter
XM_011522537.1:c.2757G>A	XP_011520839.1:p.Trp919Ter
XM_011522537.2:c.2757G>A	XP_011520839.1:p.Trp919Ter
XM_024450298.1:c.5799G>A	XP_024306066.1:p.Trp1933Ter
XM_024450299.1:c.5727G>A	XP_024306067.1:p.Trp1909Ter
XM_024450300.1:c.5589G>A	XP_024306068.1:p.Trp1863Ter
XM_024450301.1:c.3675G>A	XP_024306069.1:p.Trp1225Ter
XR_932867.1:n.5772G>A
XR_932868.1:n.5772G>A
XR_932869.1:n.5772G>A
XR_932870.1:n.5772G>A