Canonical Allele Identifier: CA394332463

Gene: PKD1 PKD1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2091793C>T , CM000678.2:g.2091793C>T	GRCh38
NC_000016.9:g.2141794C>T , CM000678.1:g.2141794C>T	GRCh37
NC_000016.8:g.2081795C>T	NCBI36
NG_008617.1:g.51428G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.11525G>A (PKD1) MANE Select	NP_001009944.3:p.Trp3842Ter
ENST00000262304.9:c.11525G>A (PKD1) MANE Select	ENSP00000262304.4:p.Trp3842Ter
NM_000296.3:c.11522G>A (PKD1)	NP_000287.3:p.Trp3841Ter
NM_000296.4:c.11522G>A (PKD1)	NP_000287.4:p.Trp3841Ter
NM_001009944.2:c.11525G>A (PKD1)	NP_001009944.2:p.Trp3842Ter
NR_135175.1:n.179+179C>T (PKD1-AS1)
ENST00000262304.8:c.11525G>A (PKD1)	ENSP00000262304.4:p.Trp3842Ter
ENST00000423118.5:c.11522G>A (PKD1)	ENSP00000399501.1:p.Trp3841Ter
ENST00000485120.1:n.514G>A (PKD1)
ENST00000487932.5:c.6087G>A (PKD1)	ENSP00000457132.1:n.6087G>A
ENST00000561668.5:c.186G>A (PKD1)
ENST00000564313.1:n.221G>A (PKD1)
XM_005255370.2:c.8480G>A (PKD1)	XP_005255427.1:p.Trp2827Ter
XM_005255370.3:c.8480G>A (PKD1)	XP_005255427.1:p.Trp2827Ter
XM_011522525.1:c.11603G>A (PKD1)	XP_011520827.1:p.Trp3868Ter
XM_011522526.1:c.11600G>A (PKD1)	XP_011520828.1:p.Trp3867Ter
XM_011522527.1:c.11585G>A (PKD1)	XP_011520829.1:p.Trp3862Ter
XM_011522528.1:c.11579G>A (PKD1)	XP_011520830.1:p.Trp3860Ter
XM_011522528.3:c.11579G>A (PKD1)	XP_011520830.1:p.Trp3860Ter
XM_011522529.1:c.11576G>A (PKD1)	XP_011520831.1:p.Trp3859Ter
XM_011522529.2:c.11576G>A (PKD1)	XP_011520831.1:p.Trp3859Ter
XM_011522530.1:c.11549G>A (PKD1)	XP_011520832.1:p.Trp3850Ter
XM_011522531.1:c.11531G>A (PKD1)	XP_011520833.1:p.Trp3844Ter
XM_011522532.1:c.11477G>A (PKD1)	XP_011520834.1:p.Trp3826Ter
XM_011522533.1:c.11396G>A (PKD1)	XP_011520835.1:p.Trp3799Ter
XM_011522534.1:c.11339G>A (PKD1)	XP_011520836.1:p.Trp3780Ter
XM_011522535.1:c.9425G>A (PKD1)	XP_011520837.1:p.Trp3142Ter
XM_011522537.1:c.8603G>A (PKD1)	XP_011520839.1:p.Trp2868Ter
XM_011522537.2:c.8603G>A (PKD1)	XP_011520839.1:p.Trp2868Ter
XM_024450298.1:c.11645G>A (PKD1)	XP_024306066.1:p.Trp3882Ter
XM_024450299.1:c.11573G>A (PKD1)	XP_024306067.1:p.Trp3858Ter
XM_024450300.1:c.11435G>A (PKD1)	XP_024306068.1:p.Trp3812Ter
XM_024450301.1:c.9521G>A (PKD1)	XP_024306069.1:p.Trp3174Ter
XR_932867.1:n.11618G>A (PKD1)
XR_932868.1:n.11365G>A (PKD1)
XR_932869.1:n.11365G>A (PKD1)
XR_933000.1:n.89+179C>T (PKD1-AS1)
XR_933001.1:n.179+179C>T (PKD1-AS1)
XR_933002.1:n.88+185C>T (PKD1-AS1)
XR_933003.1:n.88+185C>T (PKD1-AS1)