Canonical Allele Identifier: CA394341423

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2144121C>G (hg19) ; chr16:g.2094120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094120C>G , CM000678.2:g.2094120C>G	GRCh38
NC_000016.9:g.2144121C>G , CM000678.1:g.2144121C>G	GRCh37
NC_000016.8:g.2084122C>G	NCBI36
NG_008617.1:g.49101G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10590G>C (PKD1) MANE Select	ENSP00000262304.4:p.Gln3530His
ENST00000262304.8:c.10590G>C (PKD1)	ENSP00000262304.4:p.Gln3530His
ENST00000423118.5:c.10587G>C (PKD1)	ENSP00000399501.1:p.Gln3529His
ENST00000472659.1:n.27G>C (PKD1)
ENST00000487932.5:c.5152G>C (PKD1)	ENSP00000457132.1:n.5152G>C
NM_000296.3:c.10587G>C (PKD1)	NP_000287.3:p.Gln3529His
NM_001009944.2:c.10590G>C (PKD1)	NP_001009944.2:p.Gln3530His
XM_005255370.2:c.7545G>C (PKD1)	XP_005255427.1:p.Gln2515His
XM_011522525.1:c.10668G>C (PKD1)	XP_011520827.1:p.Gln3556His
XM_011522526.1:c.10665G>C (PKD1)	XP_011520828.1:p.Gln3555His
XM_011522527.1:c.10650G>C (PKD1)	XP_011520829.1:p.Gln3550His
XM_011522528.1:c.10644G>C (PKD1)	XP_011520830.1:p.Gln3548His
XM_011522529.1:c.10641G>C (PKD1)	XP_011520831.1:p.Gln3547His
XM_011522530.1:c.10614G>C (PKD1)	XP_011520832.1:p.Gln3538His
XM_011522531.1:c.10596G>C (PKD1)	XP_011520833.1:p.Gln3532His
XM_011522532.1:c.10542G>C (PKD1)	XP_011520834.1:p.Gln3514His
XM_011522533.1:c.10461G>C (PKD1)	XP_011520835.1:p.Gln3487His
XM_011522534.1:c.10404G>C (PKD1)	XP_011520836.1:p.Gln3468His
XM_011522535.1:c.8490G>C (PKD1)	XP_011520837.1:p.Gln2830His
XM_011522537.1:c.7668G>C (PKD1)	XP_011520839.1:p.Gln2556His
XR_932867.1:n.10683G>C (PKD1)
XR_932868.1:n.10683G>C (PKD1)
XR_932869.1:n.10683G>C (PKD1)
XR_932870.1:n.10683G>C (PKD1)
XR_933000.1:n.214-558C>G (PKD1-AS1)
XR_933001.1:n.304-601C>G (PKD1-AS1)
XR_933002.1:n.213-558C>G (PKD1-AS1)
XR_933003.1:n.213-601C>G (PKD1-AS1)
NR_135175.1:n.304-601C>G (PKD1-AS1)
XM_005255370.3:c.7545G>C (PKD1)	XP_005255427.1:p.Gln2515His
XM_011522528.3:c.10644G>C (PKD1)	XP_011520830.1:p.Gln3548His
XM_011522529.2:c.10641G>C (PKD1)	XP_011520831.1:p.Gln3547His
XM_011522537.2:c.7668G>C (PKD1)	XP_011520839.1:p.Gln2556His
XM_024450298.1:c.10710G>C (PKD1)	XP_024306066.1:p.Gln3570His
XM_024450299.1:c.10638G>C (PKD1)	XP_024306067.1:p.Gln3546His
XM_024450300.1:c.10500G>C (PKD1)	XP_024306068.1:p.Gln3500His
XM_024450301.1:c.8586G>C (PKD1)	XP_024306069.1:p.Gln2862His
NM_000296.4:c.10587G>C (PKD1)	NP_000287.4:p.Gln3529His
NM_001009944.3:c.10590G>C (PKD1) MANE Select	NP_001009944.3:p.Gln3530His