Canonical Allele Identifier: CA394339570

Gene: PKD1 PKD1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2093810C>T , CM000678.2:g.2093810C>T	GRCh38
NC_000016.9:g.2143811C>T , CM000678.1:g.2143811C>T	GRCh37
NC_000016.8:g.2083812C>T	NCBI36
NG_008617.1:g.49411G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.10821+1G>A (PKD1) MANE Select	NP_001009944.3:n.10821+1G>A
ENST00000262304.9:c.10821+1G>A (PKD1) MANE Select	ENSP00000262304.4:n.10821+1G>A
NM_000296.3:c.10818+1G>A (PKD1)	NP_000287.3:n.10818+1G>A
NM_000296.4:c.10818+1G>A (PKD1)	NP_000287.4:n.10818+1G>A
NM_001009944.2:c.10821+1G>A (PKD1)	NP_001009944.2:n.10821+1G>A
NR_135175.1:n.303+798C>T (PKD1-AS1)
ENST00000262304.8:c.10821+1G>A (PKD1)	ENSP00000262304.4:n.10821+1G>A
ENST00000423118.5:c.10818+1G>A (PKD1)	ENSP00000399501.1:n.10818+1G>A
ENST00000472659.1:n.258+1G>A (PKD1)
ENST00000487932.5:c.5383+1G>A (PKD1)	ENSP00000457132.1:n.5383+1G>A
ENST00000562425.1:c.74+1G>A (PKD1)
ENST00000568796.1:n.63+1G>A (PKD1)
XM_005255370.2:c.7776+1G>A (PKD1)	XP_005255427.1:n.7776+1G>A
XM_005255370.3:c.7776+1G>A (PKD1)	XP_005255427.1:n.7776+1G>A
XM_011522525.1:c.10899+1G>A (PKD1)	XP_011520827.1:n.10899+1G>A
XM_011522526.1:c.10896+1G>A (PKD1)	XP_011520828.1:n.10896+1G>A
XM_011522527.1:c.10881+1G>A (PKD1)	XP_011520829.1:n.10881+1G>A
XM_011522528.1:c.10875+1G>A (PKD1)	XP_011520830.1:n.10875+1G>A
XM_011522528.3:c.10875+1G>A (PKD1)	XP_011520830.1:n.10875+1G>A
XM_011522529.1:c.10872+1G>A (PKD1)	XP_011520831.1:n.10872+1G>A
XM_011522529.2:c.10872+1G>A (PKD1)	XP_011520831.1:n.10872+1G>A
XM_011522530.1:c.10845+1G>A (PKD1)	XP_011520832.1:n.10845+1G>A
XM_011522531.1:c.10827+1G>A (PKD1)	XP_011520833.1:n.10827+1G>A
XM_011522532.1:c.10773+1G>A (PKD1)	XP_011520834.1:n.10773+1G>A
XM_011522533.1:c.10692+1G>A (PKD1)	XP_011520835.1:n.10692+1G>A
XM_011522534.1:c.10635+1G>A (PKD1)	XP_011520836.1:n.10635+1G>A
XM_011522535.1:c.8721+1G>A (PKD1)	XP_011520837.1:n.8721+1G>A
XM_011522537.1:c.7899+1G>A (PKD1)	XP_011520839.1:n.7899+1G>A
XM_011522537.2:c.7899+1G>A (PKD1)	XP_011520839.1:n.7899+1G>A
XM_024450298.1:c.10941+1G>A (PKD1)	XP_024306066.1:n.10941+1G>A
XM_024450299.1:c.10869+1G>A (PKD1)	XP_024306067.1:n.10869+1G>A
XM_024450300.1:c.10731+1G>A (PKD1)	XP_024306068.1:n.10731+1G>A
XM_024450301.1:c.8817+1G>A (PKD1)	XP_024306069.1:n.8817+1G>A
XR_932867.1:n.10914+1G>A (PKD1)
XR_932868.1:n.10914+1G>A (PKD1)
XR_932869.1:n.10914+1G>A (PKD1)
XR_932870.1:n.10914+1G>A (PKD1)
XR_933000.1:n.213+798C>T (PKD1-AS1)
XR_933001.1:n.303+798C>T (PKD1-AS1)
XR_933002.1:n.212+798C>T (PKD1-AS1)
XR_933003.1:n.212+798C>T (PKD1-AS1)