Canonical Allele Identifier: CA394336496

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142580A>C (hg19) ; chr16:g.2092579A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092579A>C , CM000678.2:g.2092579A>C	GRCh38
NC_000016.9:g.2142580A>C , CM000678.1:g.2142580A>C	GRCh37
NC_000016.8:g.2082581A>C	NCBI36
NG_008617.1:g.50642T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11170T>G (PKD1) MANE Select	ENSP00000262304.4:p.Trp3724Gly
ENST00000262304.8:c.11170T>G (PKD1)	ENSP00000262304.4:p.Trp3724Gly
ENST00000423118.5:c.11167T>G (PKD1)	ENSP00000399501.1:p.Trp3723Gly
ENST00000485120.1:n.19T>G (PKD1)
ENST00000487932.5:c.5732T>G (PKD1)	ENSP00000457132.1:n.5732T>G
ENST00000562425.1:c.283T>G (PKD1)
ENST00000567355.1:n.333T>G (PKD1)
NM_000296.3:c.11167T>G (PKD1)	NP_000287.3:p.Trp3723Gly
NM_001009944.2:c.11170T>G (PKD1)	NP_001009944.2:p.Trp3724Gly
XM_005255370.2:c.8125T>G (PKD1)	XP_005255427.1:p.Trp2709Gly
XM_011522525.1:c.11248T>G (PKD1)	XP_011520827.1:p.Trp3750Gly
XM_011522526.1:c.11245T>G (PKD1)	XP_011520828.1:p.Trp3749Gly
XM_011522527.1:c.11230T>G (PKD1)	XP_011520829.1:p.Trp3744Gly
XM_011522528.1:c.11224T>G (PKD1)	XP_011520830.1:p.Trp3742Gly
XM_011522529.1:c.11221T>G (PKD1)	XP_011520831.1:p.Trp3741Gly
XM_011522530.1:c.11194T>G (PKD1)	XP_011520832.1:p.Trp3732Gly
XM_011522531.1:c.11176T>G (PKD1)	XP_011520833.1:p.Trp3726Gly
XM_011522532.1:c.11122T>G (PKD1)	XP_011520834.1:p.Trp3708Gly
XM_011522533.1:c.11041T>G (PKD1)	XP_011520835.1:p.Trp3681Gly
XM_011522534.1:c.10984T>G (PKD1)	XP_011520836.1:p.Trp3662Gly
XM_011522535.1:c.9070T>G (PKD1)	XP_011520837.1:p.Trp3024Gly
XM_011522537.1:c.8248T>G (PKD1)	XP_011520839.1:p.Trp2750Gly
XR_932867.1:n.11263T>G (PKD1)
XR_932868.1:n.11110-391T>G (PKD1)
XR_932869.1:n.11110-391T>G (PKD1)
XR_932870.1:n.11123T>G (PKD1)
XR_933000.1:n.90-310A>C (PKD1-AS1)
XR_933001.1:n.180-310A>C (PKD1-AS1)
XR_933002.1:n.89-310A>C (PKD1-AS1)
XR_933003.1:n.89-310A>C (PKD1-AS1)
NR_135175.1:n.180-310A>C (PKD1-AS1)
XM_005255370.3:c.8125T>G (PKD1)	XP_005255427.1:p.Trp2709Gly
XM_011522528.3:c.11224T>G (PKD1)	XP_011520830.1:p.Trp3742Gly
XM_011522529.2:c.11221T>G (PKD1)	XP_011520831.1:p.Trp3741Gly
XM_011522537.2:c.8248T>G (PKD1)	XP_011520839.1:p.Trp2750Gly
XM_024450298.1:c.11290T>G (PKD1)	XP_024306066.1:p.Trp3764Gly
XM_024450299.1:c.11218T>G (PKD1)	XP_024306067.1:p.Trp3740Gly
XM_024450300.1:c.11080T>G (PKD1)	XP_024306068.1:p.Trp3694Gly
XM_024450301.1:c.9166T>G (PKD1)	XP_024306069.1:p.Trp3056Gly
NM_000296.4:c.11167T>G (PKD1)	NP_000287.4:p.Trp3723Gly
NM_001009944.3:c.11170T>G (PKD1) MANE Select	NP_001009944.3:p.Trp3724Gly