Canonical Allele Identifier: CA394372630

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2108251C>T , CM000678.2:g.2108251C>T	GRCh38
NC_000016.9:g.2158252C>T , CM000678.1:g.2158252C>T	GRCh37
NC_000016.8:g.2098253C>T	NCBI36
NG_008617.1:g.32648G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.6915+1G>A MANE Select	NP_001009944.3:n.6915+1G>A
ENST00000262304.9:c.6915+1G>A MANE Select	ENSP00000262304.4:n.6915+1G>A
NM_000296.3:c.6915+1G>A	NP_000287.3:n.6915+1G>A
NM_000296.4:c.6915+1G>A	NP_000287.4:n.6915+1G>A
NM_001009944.2:c.6915+1G>A	NP_001009944.2:n.6915+1G>A
ENST00000262304.8:c.6915+1G>A	ENSP00000262304.4:n.6915+1G>A
ENST00000415938.7:n.311-1303G>A
ENST00000423118.5:c.6915+1G>A	ENSP00000399501.1:n.6915+1G>A
ENST00000473780.2:n.297+1G>A
ENST00000483024.1:c.234-1303G>A
ENST00000483731.5:n.791-1303G>A
ENST00000487932.5:c.1602+1G>A	ENSP00000457132.1:n.1602+1G>A
ENST00000488185.2:c.579+1G>A
ENST00000565639.6:n.774-1303G>A
ENST00000568591.5:c.2227-1303G>A	ENSP00000457162.1:n.2227-1303G>A
ENST00000569983.5:n.422-1303G>A
XM_005255370.2:c.3870+1G>A	XP_005255427.1:n.3870+1G>A
XM_005255370.3:c.3870+1G>A	XP_005255427.1:n.3870+1G>A
XM_011522525.1:c.6993+1G>A	XP_011520827.1:n.6993+1G>A
XM_011522526.1:c.6993+1G>A	XP_011520828.1:n.6993+1G>A
XM_011522527.1:c.6993+1G>A	XP_011520829.1:n.6993+1G>A
XM_011522528.1:c.6969+1G>A	XP_011520830.1:n.6969+1G>A
XM_011522528.3:c.6969+1G>A	XP_011520830.1:n.6969+1G>A
XM_011522529.1:c.6969+1G>A	XP_011520831.1:n.6969+1G>A
XM_011522529.2:c.6969+1G>A	XP_011520831.1:n.6969+1G>A
XM_011522530.1:c.6939+1G>A	XP_011520832.1:n.6939+1G>A
XM_011522531.1:c.6921+1G>A	XP_011520833.1:n.6921+1G>A
XM_011522532.1:c.6867+1G>A	XP_011520834.1:n.6867+1G>A
XM_011522533.1:c.6786+1G>A	XP_011520835.1:n.6786+1G>A
XM_011522534.1:c.6729+1G>A	XP_011520836.1:n.6729+1G>A
XM_011522535.1:c.4815+1G>A	XP_011520837.1:n.4815+1G>A
XM_011522536.1:c.6993+1G>A	XP_011520838.1:n.6993+1G>A
XM_011522537.1:c.3993+1G>A	XP_011520839.1:n.3993+1G>A
XM_011522537.2:c.3993+1G>A	XP_011520839.1:n.3993+1G>A
XM_024450298.1:c.7035+1G>A	XP_024306066.1:n.7035+1G>A
XM_024450299.1:c.6963+1G>A	XP_024306067.1:n.6963+1G>A
XM_024450300.1:c.6825+1G>A	XP_024306068.1:n.6825+1G>A
XM_024450301.1:c.4911+1G>A	XP_024306069.1:n.4911+1G>A
XR_932867.1:n.7008+1G>A
XR_932868.1:n.7008+1G>A
XR_932869.1:n.7008+1G>A
XR_932870.1:n.7008+1G>A