Canonical Allele Identifier: CA394371041

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156621A>T (hg19) ; chr16:g.2106620A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106620A>T , CM000678.2:g.2106620A>T	GRCh38
NC_000016.9:g.2156621A>T , CM000678.1:g.2156621A>T	GRCh37
NC_000016.8:g.2096622A>T	NCBI36
NG_008617.1:g.34279T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7267T>A MANE Select	ENSP00000262304.4:p.Ser2423Thr
ENST00000262304.8:c.7267T>A	ENSP00000262304.4:p.Ser2423Thr
ENST00000415938.7:n.512T>A
ENST00000423118.5:c.7267T>A	ENSP00000399501.1:p.Ser2423Thr
ENST00000483024.1:c.435T>A
ENST00000483558.5:n.326T>A
ENST00000483731.5:n.992T>A
ENST00000486339.6:n.1013T>A
ENST00000487932.5:c.1954T>A	ENSP00000457132.1:p.Ser652Thr
ENST00000496574.6:n.1270T>A
ENST00000565639.6:n.975T>A
ENST00000568591.5:c.2428T>A	ENSP00000457162.1:n.2428T>A
ENST00000569983.5:n.623T>A
NM_000296.3:c.7267T>A	NP_000287.3:p.Ser2423Thr
NM_001009944.2:c.7267T>A	NP_001009944.2:p.Ser2423Thr
XM_005255370.2:c.4222T>A	XP_005255427.1:p.Ser1408Thr
XM_011522525.1:c.7345T>A	XP_011520827.1:p.Ser2449Thr
XM_011522526.1:c.7345T>A	XP_011520828.1:p.Ser2449Thr
XM_011522527.1:c.7345T>A	XP_011520829.1:p.Ser2449Thr
XM_011522528.1:c.7321T>A	XP_011520830.1:p.Ser2441Thr
XM_011522529.1:c.7321T>A	XP_011520831.1:p.Ser2441Thr
XM_011522530.1:c.7291T>A	XP_011520832.1:p.Ser2431Thr
XM_011522531.1:c.7273T>A	XP_011520833.1:p.Ser2425Thr
XM_011522532.1:c.7219T>A	XP_011520834.1:p.Ser2407Thr
XM_011522533.1:c.7138T>A	XP_011520835.1:p.Ser2380Thr
XM_011522534.1:c.7081T>A	XP_011520836.1:p.Ser2361Thr
XM_011522535.1:c.5167T>A	XP_011520837.1:p.Ser1723Thr
XM_011522536.1:c.7345T>A	XP_011520838.1:p.Ser2449Thr
XM_011522537.1:c.4345T>A	XP_011520839.1:p.Ser1449Thr
XR_932867.1:n.7360T>A
XR_932868.1:n.7360T>A
XR_932869.1:n.7360T>A
XR_932870.1:n.7360T>A
XM_005255370.3:c.4222T>A	XP_005255427.1:p.Ser1408Thr
XM_011522528.3:c.7321T>A	XP_011520830.1:p.Ser2441Thr
XM_011522529.2:c.7321T>A	XP_011520831.1:p.Ser2441Thr
XM_011522537.2:c.4345T>A	XP_011520839.1:p.Ser1449Thr
XM_024450298.1:c.7387T>A	XP_024306066.1:p.Ser2463Thr
XM_024450299.1:c.7315T>A	XP_024306067.1:p.Ser2439Thr
XM_024450300.1:c.7177T>A	XP_024306068.1:p.Ser2393Thr
XM_024450301.1:c.5263T>A	XP_024306069.1:p.Ser1755Thr
NM_000296.4:c.7267T>A	NP_000287.4:p.Ser2423Thr
NM_001009944.3:c.7267T>A MANE Select	NP_001009944.3:p.Ser2423Thr