Canonical Allele Identifier: CA394336140

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142495A>G (hg19) ; chr16:g.2092494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092494A>G , CM000678.2:g.2092494A>G	GRCh38
NC_000016.9:g.2142495A>G , CM000678.1:g.2142495A>G	GRCh37
NC_000016.8:g.2082496A>G	NCBI36
NG_008617.1:g.50727T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11255T>C (PKD1) MANE Select	ENSP00000262304.4:p.Val3752Ala
ENST00000262304.8:c.11255T>C (PKD1)	ENSP00000262304.4:p.Val3752Ala
ENST00000423118.5:c.11252T>C (PKD1)	ENSP00000399501.1:p.Val3751Ala
ENST00000485120.1:n.104T>C (PKD1)
ENST00000487932.5:c.5817T>C (PKD1)	ENSP00000457132.1:n.5817T>C
ENST00000562425.1:c.368T>C (PKD1)
ENST00000567355.1:n.418T>C (PKD1)
NM_000296.3:c.11252T>C (PKD1)	NP_000287.3:p.Val3751Ala
NM_001009944.2:c.11255T>C (PKD1)	NP_001009944.2:p.Val3752Ala
XM_005255370.2:c.8210T>C (PKD1)	XP_005255427.1:p.Val2737Ala
XM_011522525.1:c.11333T>C (PKD1)	XP_011520827.1:p.Val3778Ala
XM_011522526.1:c.11330T>C (PKD1)	XP_011520828.1:p.Val3777Ala
XM_011522527.1:c.11315T>C (PKD1)	XP_011520829.1:p.Val3772Ala
XM_011522528.1:c.11309T>C (PKD1)	XP_011520830.1:p.Val3770Ala
XM_011522529.1:c.11306T>C (PKD1)	XP_011520831.1:p.Val3769Ala
XM_011522530.1:c.11279T>C (PKD1)	XP_011520832.1:p.Val3760Ala
XM_011522531.1:c.11261T>C (PKD1)	XP_011520833.1:p.Val3754Ala
XM_011522532.1:c.11207T>C (PKD1)	XP_011520834.1:p.Val3736Ala
XM_011522533.1:c.11126T>C (PKD1)	XP_011520835.1:p.Val3709Ala
XM_011522534.1:c.11069T>C (PKD1)	XP_011520836.1:p.Val3690Ala
XM_011522535.1:c.9155T>C (PKD1)	XP_011520837.1:p.Val3052Ala
XM_011522537.1:c.8333T>C (PKD1)	XP_011520839.1:p.Val2778Ala
XR_932867.1:n.11348T>C (PKD1)
XR_932868.1:n.11110-306T>C (PKD1)
XR_932869.1:n.11110-306T>C (PKD1)
XR_932870.1:n.11208T>C (PKD1)
XR_933000.1:n.90-395A>G (PKD1-AS1)
XR_933001.1:n.180-395A>G (PKD1-AS1)
XR_933002.1:n.89-395A>G (PKD1-AS1)
XR_933003.1:n.89-395A>G (PKD1-AS1)
NR_135175.1:n.180-395A>G (PKD1-AS1)
XM_005255370.3:c.8210T>C (PKD1)	XP_005255427.1:p.Val2737Ala
XM_011522528.3:c.11309T>C (PKD1)	XP_011520830.1:p.Val3770Ala
XM_011522529.2:c.11306T>C (PKD1)	XP_011520831.1:p.Val3769Ala
XM_011522537.2:c.8333T>C (PKD1)	XP_011520839.1:p.Val2778Ala
XM_024450298.1:c.11375T>C (PKD1)	XP_024306066.1:p.Val3792Ala
XM_024450299.1:c.11303T>C (PKD1)	XP_024306067.1:p.Val3768Ala
XM_024450300.1:c.11165T>C (PKD1)	XP_024306068.1:p.Val3722Ala
XM_024450301.1:c.9251T>C (PKD1)	XP_024306069.1:p.Val3084Ala
NM_000296.4:c.11252T>C (PKD1)	NP_000287.4:p.Val3751Ala
NM_001009944.3:c.11255T>C (PKD1) MANE Select	NP_001009944.3:p.Val3752Ala