Canonical Allele Identifier: CA493046944

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106660-C-A
• MyVariant Identifiers: chr16:g.2156661C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106660C>A , CM000678.2:g.2106660C>A	GRCh38
NC_000016.9:g.2156661C>A , CM000678.1:g.2156661C>A	GRCh37
NC_000016.8:g.2096662C>A	NCBI36
NG_008617.1:g.34239G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7227G>T MANE Select	ENSP00000262304.4:p.Thr2409=
ENST00000262304.8:c.7227G>T	ENSP00000262304.4:p.Thr2409=
ENST00000415938.7:n.472G>T
ENST00000423118.5:c.7227G>T	ENSP00000399501.1:p.Thr2409=
ENST00000483024.1:c.395G>T
ENST00000483558.5:n.286G>T
ENST00000483731.5:n.952G>T
ENST00000486339.6:n.973G>T
ENST00000487932.5:c.1914G>T	ENSP00000457132.1:p.Thr638=
ENST00000496574.6:n.1230G>T
ENST00000565639.6:n.935G>T
ENST00000568591.5:c.2388G>T	ENSP00000457162.1:n.2388G>T
ENST00000569983.5:n.583G>T
NM_000296.3:c.7227G>T	NP_000287.3:p.Thr2409=
NM_001009944.2:c.7227G>T	NP_001009944.2:p.Thr2409=
XM_005255370.2:c.4182G>T	XP_005255427.1:p.Thr1394=
XM_011522525.1:c.7305G>T	XP_011520827.1:p.Thr2435=
XM_011522526.1:c.7305G>T	XP_011520828.1:p.Thr2435=
XM_011522527.1:c.7305G>T	XP_011520829.1:p.Thr2435=
XM_011522528.1:c.7281G>T	XP_011520830.1:p.Thr2427=
XM_011522529.1:c.7281G>T	XP_011520831.1:p.Thr2427=
XM_011522530.1:c.7251G>T	XP_011520832.1:p.Thr2417=
XM_011522531.1:c.7233G>T	XP_011520833.1:p.Thr2411=
XM_011522532.1:c.7179G>T	XP_011520834.1:p.Thr2393=
XM_011522533.1:c.7098G>T	XP_011520835.1:p.Thr2366=
XM_011522534.1:c.7041G>T	XP_011520836.1:p.Thr2347=
XM_011522535.1:c.5127G>T	XP_011520837.1:p.Thr1709=
XM_011522536.1:c.7305G>T	XP_011520838.1:p.Thr2435=
XM_011522537.1:c.4305G>T	XP_011520839.1:p.Thr1435=
XR_932867.1:n.7320G>T
XR_932868.1:n.7320G>T
XR_932869.1:n.7320G>T
XR_932870.1:n.7320G>T
XM_005255370.3:c.4182G>T	XP_005255427.1:p.Thr1394=
XM_011522528.3:c.7281G>T	XP_011520830.1:p.Thr2427=
XM_011522529.2:c.7281G>T	XP_011520831.1:p.Thr2427=
XM_011522537.2:c.4305G>T	XP_011520839.1:p.Thr1435=
XM_024450298.1:c.7347G>T	XP_024306066.1:p.Thr2449=
XM_024450299.1:c.7275G>T	XP_024306067.1:p.Thr2425=
XM_024450300.1:c.7137G>T	XP_024306068.1:p.Thr2379=
XM_024450301.1:c.5223G>T	XP_024306069.1:p.Thr1741=
NM_000296.4:c.7227G>T	NP_000287.4:p.Thr2409=
NM_001009944.3:c.7227G>T MANE Select	NP_001009944.3:p.Thr2409=