Canonical Allele Identifier: CA394356715

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2100568T>C , CM000678.2:g.2100568T>C	GRCh38
NC_000016.9:g.2150569T>C , CM000678.1:g.2150569T>C	GRCh37
NC_000016.8:g.2090570T>C	NCBI36
NG_008617.1:g.42653A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.9398-2A>G MANE Select	NP_001009944.3:n.9398-2A>G
ENST00000262304.9:c.9398-2A>G MANE Select	ENSP00000262304.4:n.9398-2A>G
NM_000296.3:c.9398-2A>G	NP_000287.3:n.9398-2A>G
NM_000296.4:c.9398-2A>G	NP_000287.4:n.9398-2A>G
NM_001009944.2:c.9398-2A>G	NP_001009944.2:n.9398-2A>G
ENST00000262304.8:c.9398-2A>G	ENSP00000262304.4:n.9398-2A>G
ENST00000415938.7:n.2477-2A>G
ENST00000423118.5:c.9398-2A>G	ENSP00000399501.1:n.9398-2A>G
ENST00000469851.1:n.119A>G
ENST00000471603.6:n.1042-2A>G
ENST00000480227.5:n.1135-2A>G
ENST00000483731.5:n.3284-2A>G
ENST00000483814.1:n.198A>G
ENST00000486339.6:n.3534-2A>G
ENST00000487932.5:c.3960-2A>G	ENSP00000457132.1:n.3960-2A>G
ENST00000496574.6:n.3634-2A>G
ENST00000562297.5:n.1131-2A>G
ENST00000567946.1:c.1000-2A>G
XM_005255370.2:c.6353-2A>G	XP_005255427.1:n.6353-2A>G
XM_005255370.3:c.6353-2A>G	XP_005255427.1:n.6353-2A>G
XM_011522525.1:c.9476-2A>G	XP_011520827.1:n.9476-2A>G
XM_011522526.1:c.9476-2A>G	XP_011520828.1:n.9476-2A>G
XM_011522527.1:c.9458-2A>G	XP_011520829.1:n.9458-2A>G
XM_011522528.1:c.9452-2A>G	XP_011520830.1:n.9452-2A>G
XM_011522528.3:c.9452-2A>G	XP_011520830.1:n.9452-2A>G
XM_011522529.1:c.9452-2A>G	XP_011520831.1:n.9452-2A>G
XM_011522529.2:c.9452-2A>G	XP_011520831.1:n.9452-2A>G
XM_011522530.1:c.9422-2A>G	XP_011520832.1:n.9422-2A>G
XM_011522531.1:c.9404-2A>G	XP_011520833.1:n.9404-2A>G
XM_011522532.1:c.9350-2A>G	XP_011520834.1:n.9350-2A>G
XM_011522533.1:c.9269-2A>G	XP_011520835.1:n.9269-2A>G
XM_011522534.1:c.9212-2A>G	XP_011520836.1:n.9212-2A>G
XM_011522535.1:c.7298-2A>G	XP_011520837.1:n.7298-2A>G
XM_011522536.1:c.9476-2A>G	XP_011520838.1:n.9476-2A>G
XM_011522537.1:c.6476-2A>G	XP_011520839.1:n.6476-2A>G
XM_011522537.2:c.6476-2A>G	XP_011520839.1:n.6476-2A>G
XM_024450298.1:c.9518-2A>G	XP_024306066.1:n.9518-2A>G
XM_024450299.1:c.9446-2A>G	XP_024306067.1:n.9446-2A>G
XM_024450300.1:c.9308-2A>G	XP_024306068.1:n.9308-2A>G
XM_024450301.1:c.7394-2A>G	XP_024306069.1:n.7394-2A>G
XR_932867.1:n.9491-2A>G
XR_932868.1:n.9491-2A>G
XR_932869.1:n.9491-2A>G
XR_932870.1:n.9491-2A>G