Canonical Allele Identifier: CA394370246

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106567-G-T
• MyVariant Identifiers: chr16:g.2156568G>T (hg19) ; chr16:g.2106567G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106567G>T , CM000678.2:g.2106567G>T	GRCh38
NC_000016.9:g.2156568G>T , CM000678.1:g.2156568G>T	GRCh37
NC_000016.8:g.2096569G>T	NCBI36
NG_008617.1:g.34332C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7320C>A MANE Select	ENSP00000262304.4:p.Asp2440Glu
ENST00000262304.8:c.7320C>A	ENSP00000262304.4:p.Asp2440Glu
ENST00000415938.7:n.565C>A
ENST00000423118.5:c.7320C>A	ENSP00000399501.1:p.Asp2440Glu
ENST00000483558.5:n.379C>A
ENST00000483731.5:n.1045C>A
ENST00000486339.6:n.1066C>A
ENST00000487932.5:c.2007C>A	ENSP00000457132.1:p.Asp669Glu
ENST00000496574.6:n.1323C>A
ENST00000565639.6:n.1028C>A
ENST00000568591.5:c.2481C>A	ENSP00000457162.1:n.2481C>A
ENST00000569983.5:n.676C>A
NM_000296.3:c.7320C>A	NP_000287.3:p.Asp2440Glu
NM_001009944.2:c.7320C>A	NP_001009944.2:p.Asp2440Glu
XM_005255370.2:c.4275C>A	XP_005255427.1:p.Asp1425Glu
XM_011522525.1:c.7398C>A	XP_011520827.1:p.Asp2466Glu
XM_011522526.1:c.7398C>A	XP_011520828.1:p.Asp2466Glu
XM_011522527.1:c.7398C>A	XP_011520829.1:p.Asp2466Glu
XM_011522528.1:c.7374C>A	XP_011520830.1:p.Asp2458Glu
XM_011522529.1:c.7374C>A	XP_011520831.1:p.Asp2458Glu
XM_011522530.1:c.7344C>A	XP_011520832.1:p.Asp2448Glu
XM_011522531.1:c.7326C>A	XP_011520833.1:p.Asp2442Glu
XM_011522532.1:c.7272C>A	XP_011520834.1:p.Asp2424Glu
XM_011522533.1:c.7191C>A	XP_011520835.1:p.Asp2397Glu
XM_011522534.1:c.7134C>A	XP_011520836.1:p.Asp2378Glu
XM_011522535.1:c.5220C>A	XP_011520837.1:p.Asp1740Glu
XM_011522536.1:c.7398C>A	XP_011520838.1:p.Asp2466Glu
XM_011522537.1:c.4398C>A	XP_011520839.1:p.Asp1466Glu
XR_932867.1:n.7413C>A
XR_932868.1:n.7413C>A
XR_932869.1:n.7413C>A
XR_932870.1:n.7413C>A
XM_005255370.3:c.4275C>A	XP_005255427.1:p.Asp1425Glu
XM_011522528.3:c.7374C>A	XP_011520830.1:p.Asp2458Glu
XM_011522529.2:c.7374C>A	XP_011520831.1:p.Asp2458Glu
XM_011522537.2:c.4398C>A	XP_011520839.1:p.Asp1466Glu
XM_024450298.1:c.7440C>A	XP_024306066.1:p.Asp2480Glu
XM_024450299.1:c.7368C>A	XP_024306067.1:p.Asp2456Glu
XM_024450300.1:c.7230C>A	XP_024306068.1:p.Asp2410Glu
XM_024450301.1:c.5316C>A	XP_024306069.1:p.Asp1772Glu
NM_000296.4:c.7320C>A	NP_000287.4:p.Asp2440Glu
NM_001009944.3:c.7320C>A MANE Select	NP_001009944.3:p.Asp2440Glu