Canonical Allele Identifier: CA394372306

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2107881A>C , CM000678.2:g.2107881A>C	GRCh38
NC_000016.9:g.2157882A>C , CM000678.1:g.2157882A>C	GRCh37
NC_000016.8:g.2097883A>C	NCBI36
NG_008617.1:g.33018T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.7065+2T>G MANE Select	NP_001009944.3:n.7065+2T>G
ENST00000262304.9:c.7065+2T>G MANE Select	ENSP00000262304.4:n.7065+2T>G
NM_000296.3:c.7065+2T>G	NP_000287.3:n.7065+2T>G
NM_000296.4:c.7065+2T>G	NP_000287.4:n.7065+2T>G
NM_001009944.2:c.7065+2T>G	NP_001009944.2:n.7065+2T>G
ENST00000262304.8:c.7065+2T>G	ENSP00000262304.4:n.7065+2T>G
ENST00000415938.7:n.311-933T>G
ENST00000423118.5:c.7065+2T>G	ENSP00000399501.1:n.7065+2T>G
ENST00000473780.2:n.447+2T>G
ENST00000483024.1:c.234-933T>G
ENST00000483731.5:n.791-933T>G
ENST00000487932.5:c.1752+2T>G	ENSP00000457132.1:n.1752+2T>G
ENST00000488185.2:c.729+2T>G
ENST00000496574.6:n.136T>G
ENST00000565639.6:n.774-933T>G
ENST00000568591.5:c.2227-933T>G	ENSP00000457162.1:n.2227-933T>G
ENST00000569983.5:n.422-933T>G
XM_005255370.2:c.4020+2T>G	XP_005255427.1:n.4020+2T>G
XM_005255370.3:c.4020+2T>G	XP_005255427.1:n.4020+2T>G
XM_011522525.1:c.7143+2T>G	XP_011520827.1:n.7143+2T>G
XM_011522526.1:c.7143+2T>G	XP_011520828.1:n.7143+2T>G
XM_011522527.1:c.7143+2T>G	XP_011520829.1:n.7143+2T>G
XM_011522528.1:c.7119+2T>G	XP_011520830.1:n.7119+2T>G
XM_011522528.3:c.7119+2T>G	XP_011520830.1:n.7119+2T>G
XM_011522529.1:c.7119+2T>G	XP_011520831.1:n.7119+2T>G
XM_011522529.2:c.7119+2T>G	XP_011520831.1:n.7119+2T>G
XM_011522530.1:c.7089+2T>G	XP_011520832.1:n.7089+2T>G
XM_011522531.1:c.7071+2T>G	XP_011520833.1:n.7071+2T>G
XM_011522532.1:c.7017+2T>G	XP_011520834.1:n.7017+2T>G
XM_011522533.1:c.6936+2T>G	XP_011520835.1:n.6936+2T>G
XM_011522534.1:c.6879+2T>G	XP_011520836.1:n.6879+2T>G
XM_011522535.1:c.4965+2T>G	XP_011520837.1:n.4965+2T>G
XM_011522536.1:c.7143+2T>G	XP_011520838.1:n.7143+2T>G
XM_011522537.1:c.4143+2T>G	XP_011520839.1:n.4143+2T>G
XM_011522537.2:c.4143+2T>G	XP_011520839.1:n.4143+2T>G
XM_024450298.1:c.7185+2T>G	XP_024306066.1:n.7185+2T>G
XM_024450299.1:c.7113+2T>G	XP_024306067.1:n.7113+2T>G
XM_024450300.1:c.6975+2T>G	XP_024306068.1:n.6975+2T>G
XM_024450301.1:c.5061+2T>G	XP_024306069.1:n.5061+2T>G
XR_932867.1:n.7158+2T>G
XR_932868.1:n.7158+2T>G
XR_932869.1:n.7158+2T>G
XR_932870.1:n.7158+2T>G