Canonical Allele Identifier: CA394336423

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142568C>G (hg19) ; chr16:g.2092567C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092567C>G , CM000678.2:g.2092567C>G	GRCh38
NC_000016.9:g.2142568C>G , CM000678.1:g.2142568C>G	GRCh37
NC_000016.8:g.2082569C>G	NCBI36
NG_008617.1:g.50654G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11182G>C (PKD1) MANE Select	ENSP00000262304.4:p.Ala3728Pro
ENST00000262304.8:c.11182G>C (PKD1)	ENSP00000262304.4:p.Ala3728Pro
ENST00000423118.5:c.11179G>C (PKD1)	ENSP00000399501.1:p.Ala3727Pro
ENST00000485120.1:n.31G>C (PKD1)
ENST00000487932.5:c.5744G>C (PKD1)	ENSP00000457132.1:n.5744G>C
ENST00000562425.1:c.295G>C (PKD1)
ENST00000567355.1:n.345G>C (PKD1)
NM_000296.3:c.11179G>C (PKD1)	NP_000287.3:p.Ala3727Pro
NM_001009944.2:c.11182G>C (PKD1)	NP_001009944.2:p.Ala3728Pro
XM_005255370.2:c.8137G>C (PKD1)	XP_005255427.1:p.Ala2713Pro
XM_011522525.1:c.11260G>C (PKD1)	XP_011520827.1:p.Ala3754Pro
XM_011522526.1:c.11257G>C (PKD1)	XP_011520828.1:p.Ala3753Pro
XM_011522527.1:c.11242G>C (PKD1)	XP_011520829.1:p.Ala3748Pro
XM_011522528.1:c.11236G>C (PKD1)	XP_011520830.1:p.Ala3746Pro
XM_011522529.1:c.11233G>C (PKD1)	XP_011520831.1:p.Ala3745Pro
XM_011522530.1:c.11206G>C (PKD1)	XP_011520832.1:p.Ala3736Pro
XM_011522531.1:c.11188G>C (PKD1)	XP_011520833.1:p.Ala3730Pro
XM_011522532.1:c.11134G>C (PKD1)	XP_011520834.1:p.Ala3712Pro
XM_011522533.1:c.11053G>C (PKD1)	XP_011520835.1:p.Ala3685Pro
XM_011522534.1:c.10996G>C (PKD1)	XP_011520836.1:p.Ala3666Pro
XM_011522535.1:c.9082G>C (PKD1)	XP_011520837.1:p.Ala3028Pro
XM_011522537.1:c.8260G>C (PKD1)	XP_011520839.1:p.Ala2754Pro
XR_932867.1:n.11275G>C (PKD1)
XR_932868.1:n.11110-379G>C (PKD1)
XR_932869.1:n.11110-379G>C (PKD1)
XR_932870.1:n.11135G>C (PKD1)
XR_933000.1:n.90-322C>G (PKD1-AS1)
XR_933001.1:n.180-322C>G (PKD1-AS1)
XR_933002.1:n.89-322C>G (PKD1-AS1)
XR_933003.1:n.89-322C>G (PKD1-AS1)
NR_135175.1:n.180-322C>G (PKD1-AS1)
XM_005255370.3:c.8137G>C (PKD1)	XP_005255427.1:p.Ala2713Pro
XM_011522528.3:c.11236G>C (PKD1)	XP_011520830.1:p.Ala3746Pro
XM_011522529.2:c.11233G>C (PKD1)	XP_011520831.1:p.Ala3745Pro
XM_011522537.2:c.8260G>C (PKD1)	XP_011520839.1:p.Ala2754Pro
XM_024450298.1:c.11302G>C (PKD1)	XP_024306066.1:p.Ala3768Pro
XM_024450299.1:c.11230G>C (PKD1)	XP_024306067.1:p.Ala3744Pro
XM_024450300.1:c.11092G>C (PKD1)	XP_024306068.1:p.Ala3698Pro
XM_024450301.1:c.9178G>C (PKD1)	XP_024306069.1:p.Ala3060Pro
NM_000296.4:c.11179G>C (PKD1)	NP_000287.4:p.Ala3727Pro
NM_001009944.3:c.11182G>C (PKD1) MANE Select	NP_001009944.3:p.Ala3728Pro