Canonical Allele Identifier: CA394332499

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2141798T>C (hg19) ; chr16:g.2091797T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2091797T>C , CM000678.2:g.2091797T>C	GRCh38
NC_000016.9:g.2141798T>C , CM000678.1:g.2141798T>C	GRCh37
NC_000016.8:g.2081799T>C	NCBI36
NG_008617.1:g.51424A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11521A>G (PKD1) MANE Select	ENSP00000262304.4:p.Asn3841Asp
ENST00000262304.8:c.11521A>G (PKD1)	ENSP00000262304.4:p.Asn3841Asp
ENST00000423118.5:c.11518A>G (PKD1)	ENSP00000399501.1:p.Asn3840Asp
ENST00000485120.1:n.510A>G (PKD1)
ENST00000487932.5:c.6083A>G (PKD1)	ENSP00000457132.1:n.6083A>G
ENST00000561668.5:c.182A>G (PKD1)
ENST00000564313.1:n.217A>G (PKD1)
NM_000296.3:c.11518A>G (PKD1)	NP_000287.3:p.Asn3840Asp
NM_001009944.2:c.11521A>G (PKD1)	NP_001009944.2:p.Asn3841Asp
XM_005255370.2:c.8476A>G (PKD1)	XP_005255427.1:p.Asn2826Asp
XM_011522525.1:c.11599A>G (PKD1)	XP_011520827.1:p.Asn3867Asp
XM_011522526.1:c.11596A>G (PKD1)	XP_011520828.1:p.Asn3866Asp
XM_011522527.1:c.11581A>G (PKD1)	XP_011520829.1:p.Asn3861Asp
XM_011522528.1:c.11575A>G (PKD1)	XP_011520830.1:p.Asn3859Asp
XM_011522529.1:c.11572A>G (PKD1)	XP_011520831.1:p.Asn3858Asp
XM_011522530.1:c.11545A>G (PKD1)	XP_011520832.1:p.Asn3849Asp
XM_011522531.1:c.11527A>G (PKD1)	XP_011520833.1:p.Asn3843Asp
XM_011522532.1:c.11473A>G (PKD1)	XP_011520834.1:p.Asn3825Asp
XM_011522533.1:c.11392A>G (PKD1)	XP_011520835.1:p.Asn3798Asp
XM_011522534.1:c.11335A>G (PKD1)	XP_011520836.1:p.Asn3779Asp
XM_011522535.1:c.9421A>G (PKD1)	XP_011520837.1:p.Asn3141Asp
XM_011522537.1:c.8599A>G (PKD1)	XP_011520839.1:p.Asn2867Asp
XR_932867.1:n.11614A>G (PKD1)
XR_932868.1:n.11361A>G (PKD1)
XR_932869.1:n.11361A>G (PKD1)
XR_933000.1:n.89+183T>C (PKD1-AS1)
XR_933001.1:n.179+183T>C (PKD1-AS1)
XR_933002.1:n.88+189T>C (PKD1-AS1)
XR_933003.1:n.88+189T>C (PKD1-AS1)
NR_135175.1:n.179+183T>C (PKD1-AS1)
XM_005255370.3:c.8476A>G (PKD1)	XP_005255427.1:p.Asn2826Asp
XM_011522528.3:c.11575A>G (PKD1)	XP_011520830.1:p.Asn3859Asp
XM_011522529.2:c.11572A>G (PKD1)	XP_011520831.1:p.Asn3858Asp
XM_011522537.2:c.8599A>G (PKD1)	XP_011520839.1:p.Asn2867Asp
XM_024450298.1:c.11641A>G (PKD1)	XP_024306066.1:p.Asn3881Asp
XM_024450299.1:c.11569A>G (PKD1)	XP_024306067.1:p.Asn3857Asp
XM_024450300.1:c.11431A>G (PKD1)	XP_024306068.1:p.Asn3811Asp
XM_024450301.1:c.9517A>G (PKD1)	XP_024306069.1:p.Asn3173Asp
NM_000296.4:c.11518A>G (PKD1)	NP_000287.4:p.Asn3840Asp
NM_001009944.3:c.11521A>G (PKD1) MANE Select	NP_001009944.3:p.Asn3841Asp