Canonical Allele Identifier: CA7829518

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 994664
• ClinVar RCV Id: RCV001288271 ; RCV003963183
• dbSNP Id: rs114523369
• ExAC: 16:2144137 C / A
• gnomAD v2: 16-2144137-C-A
• gnomAD v3: 16-2094136-C-A
• gnomAD v4: 16-2094136-C-A
• MyVariant Identifiers: chr16:g.2144137C>A (hg19) ; chr16:g.2094136C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094136C>A , CM000678.2:g.2094136C>A	GRCh38
NC_000016.9:g.2144137C>A , CM000678.1:g.2144137C>A	GRCh37
NC_000016.8:g.2084138C>A	NCBI36
NG_008617.1:g.49085G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10574G>T (PKD1) MANE Select	ENSP00000262304.4:p.Gly3525Val
ENST00000262304.8:c.10574G>T (PKD1)	ENSP00000262304.4:p.Gly3525Val
ENST00000423118.5:c.10571G>T (PKD1)	ENSP00000399501.1:p.Gly3524Val
ENST00000472659.1:n.11G>T (PKD1)
ENST00000487932.5:c.5136G>T (PKD1)	ENSP00000457132.1:n.5136G>T
NM_000296.3:c.10571G>T (PKD1)	NP_000287.3:p.Gly3524Val
NM_001009944.2:c.10574G>T (PKD1)	NP_001009944.2:p.Gly3525Val
XM_005255370.2:c.7529G>T (PKD1)	XP_005255427.1:p.Gly2510Val
XM_011522525.1:c.10652G>T (PKD1)	XP_011520827.1:p.Gly3551Val
XM_011522526.1:c.10649G>T (PKD1)	XP_011520828.1:p.Gly3550Val
XM_011522527.1:c.10634G>T (PKD1)	XP_011520829.1:p.Gly3545Val
XM_011522528.1:c.10628G>T (PKD1)	XP_011520830.1:p.Gly3543Val
XM_011522529.1:c.10625G>T (PKD1)	XP_011520831.1:p.Gly3542Val
XM_011522530.1:c.10598G>T (PKD1)	XP_011520832.1:p.Gly3533Val
XM_011522531.1:c.10580G>T (PKD1)	XP_011520833.1:p.Gly3527Val
XM_011522532.1:c.10526G>T (PKD1)	XP_011520834.1:p.Gly3509Val
XM_011522533.1:c.10445G>T (PKD1)	XP_011520835.1:p.Gly3482Val
XM_011522534.1:c.10388G>T (PKD1)	XP_011520836.1:p.Gly3463Val
XM_011522535.1:c.8474G>T (PKD1)	XP_011520837.1:p.Gly2825Val
XM_011522537.1:c.7652G>T (PKD1)	XP_011520839.1:p.Gly2551Val
XR_932867.1:n.10667G>T (PKD1)
XR_932868.1:n.10667G>T (PKD1)
XR_932869.1:n.10667G>T (PKD1)
XR_932870.1:n.10667G>T (PKD1)
XR_933000.1:n.214-542C>A (PKD1-AS1)
XR_933001.1:n.304-585C>A (PKD1-AS1)
XR_933002.1:n.213-542C>A (PKD1-AS1)
XR_933003.1:n.213-585C>A (PKD1-AS1)
NR_135175.1:n.304-585C>A (PKD1-AS1)
XM_005255370.3:c.7529G>T (PKD1)	XP_005255427.1:p.Gly2510Val
XM_011522528.3:c.10628G>T (PKD1)	XP_011520830.1:p.Gly3543Val
XM_011522529.2:c.10625G>T (PKD1)	XP_011520831.1:p.Gly3542Val
XM_011522537.2:c.7652G>T (PKD1)	XP_011520839.1:p.Gly2551Val
XM_024450298.1:c.10694G>T (PKD1)	XP_024306066.1:p.Gly3565Val
XM_024450299.1:c.10622G>T (PKD1)	XP_024306067.1:p.Gly3541Val
XM_024450300.1:c.10484G>T (PKD1)	XP_024306068.1:p.Gly3495Val
XM_024450301.1:c.8570G>T (PKD1)	XP_024306069.1:p.Gly2857Val
NM_000296.4:c.10571G>T (PKD1)	NP_000287.4:p.Gly3524Val
NM_001009944.3:c.10574G>T (PKD1) MANE Select	NP_001009944.3:p.Gly3525Val