Canonical Allele Identifier: CA394373750

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2108826T>C , CM000678.2:g.2108826T>C	GRCh38
NC_000016.9:g.2158827T>C , CM000678.1:g.2158827T>C	GRCh37
NC_000016.8:g.2098828T>C	NCBI36
NG_008617.1:g.32073A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.6341A>G MANE Select	NP_001009944.3:p.Tyr2114Cys
ENST00000262304.9:c.6341A>G MANE Select	ENSP00000262304.4:p.Tyr2114Cys
NM_000296.3:c.6341A>G	NP_000287.3:p.Tyr2114Cys
NM_000296.4:c.6341A>G	NP_000287.4:p.Tyr2114Cys
NM_001009944.2:c.6341A>G	NP_001009944.2:p.Tyr2114Cys
ENST00000262304.8:c.6341A>G	ENSP00000262304.4:p.Tyr2114Cys
ENST00000415938.7:n.311-1878A>G
ENST00000423118.5:c.6341A>G	ENSP00000399501.1:p.Tyr2114Cys
ENST00000483024.1:c.234-1878A>G
ENST00000483731.5:n.791-1878A>G
ENST00000487932.5:c.1028A>G	ENSP00000457132.1:p.Tyr343Cys
ENST00000488185.2:c.473-468A>G
ENST00000565639.6:n.774-1878A>G
ENST00000568591.5:c.2227-1878A>G	ENSP00000457162.1:n.2227-1878A>G
ENST00000569983.5:n.422-1878A>G
XM_005255370.2:c.3296A>G	XP_005255427.1:p.Tyr1099Cys
XM_005255370.3:c.3296A>G	XP_005255427.1:p.Tyr1099Cys
XM_011522525.1:c.6419A>G	XP_011520827.1:p.Tyr2140Cys
XM_011522526.1:c.6419A>G	XP_011520828.1:p.Tyr2140Cys
XM_011522527.1:c.6419A>G	XP_011520829.1:p.Tyr2140Cys
XM_011522528.1:c.6395A>G	XP_011520830.1:p.Tyr2132Cys
XM_011522528.3:c.6395A>G	XP_011520830.1:p.Tyr2132Cys
XM_011522529.1:c.6395A>G	XP_011520831.1:p.Tyr2132Cys
XM_011522529.2:c.6395A>G	XP_011520831.1:p.Tyr2132Cys
XM_011522530.1:c.6365A>G	XP_011520832.1:p.Tyr2122Cys
XM_011522531.1:c.6347A>G	XP_011520833.1:p.Tyr2116Cys
XM_011522532.1:c.6293A>G	XP_011520834.1:p.Tyr2098Cys
XM_011522533.1:c.6212A>G	XP_011520835.1:p.Tyr2071Cys
XM_011522534.1:c.6155A>G	XP_011520836.1:p.Tyr2052Cys
XM_011522535.1:c.4241A>G	XP_011520837.1:p.Tyr1414Cys
XM_011522536.1:c.6419A>G	XP_011520838.1:p.Tyr2140Cys
XM_011522537.1:c.3419A>G	XP_011520839.1:p.Tyr1140Cys
XM_011522537.2:c.3419A>G	XP_011520839.1:p.Tyr1140Cys
XM_024450298.1:c.6461A>G	XP_024306066.1:p.Tyr2154Cys
XM_024450299.1:c.6389A>G	XP_024306067.1:p.Tyr2130Cys
XM_024450300.1:c.6251A>G	XP_024306068.1:p.Tyr2084Cys
XM_024450301.1:c.4337A>G	XP_024306069.1:p.Tyr1446Cys
XR_932867.1:n.6434A>G
XR_932868.1:n.6434A>G
XR_932869.1:n.6434A>G
XR_932870.1:n.6434A>G