Canonical Allele Identifier: CA394370508

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156620G>C (hg19) ; chr16:g.2106619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106619G>C , CM000678.2:g.2106619G>C	GRCh38
NC_000016.9:g.2156620G>C , CM000678.1:g.2156620G>C	GRCh37
NC_000016.8:g.2096621G>C	NCBI36
NG_008617.1:g.34280C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7268C>G MANE Select	ENSP00000262304.4:p.Ser2423Cys
ENST00000262304.8:c.7268C>G	ENSP00000262304.4:p.Ser2423Cys
ENST00000415938.7:n.513C>G
ENST00000423118.5:c.7268C>G	ENSP00000399501.1:p.Ser2423Cys
ENST00000483024.1:c.436C>G
ENST00000483558.5:n.327C>G
ENST00000483731.5:n.993C>G
ENST00000486339.6:n.1014C>G
ENST00000487932.5:c.1955C>G	ENSP00000457132.1:p.Ser652Cys
ENST00000496574.6:n.1271C>G
ENST00000565639.6:n.976C>G
ENST00000568591.5:c.2429C>G	ENSP00000457162.1:n.2429C>G
ENST00000569983.5:n.624C>G
NM_000296.3:c.7268C>G	NP_000287.3:p.Ser2423Cys
NM_001009944.2:c.7268C>G	NP_001009944.2:p.Ser2423Cys
XM_005255370.2:c.4223C>G	XP_005255427.1:p.Ser1408Cys
XM_011522525.1:c.7346C>G	XP_011520827.1:p.Ser2449Cys
XM_011522526.1:c.7346C>G	XP_011520828.1:p.Ser2449Cys
XM_011522527.1:c.7346C>G	XP_011520829.1:p.Ser2449Cys
XM_011522528.1:c.7322C>G	XP_011520830.1:p.Ser2441Cys
XM_011522529.1:c.7322C>G	XP_011520831.1:p.Ser2441Cys
XM_011522530.1:c.7292C>G	XP_011520832.1:p.Ser2431Cys
XM_011522531.1:c.7274C>G	XP_011520833.1:p.Ser2425Cys
XM_011522532.1:c.7220C>G	XP_011520834.1:p.Ser2407Cys
XM_011522533.1:c.7139C>G	XP_011520835.1:p.Ser2380Cys
XM_011522534.1:c.7082C>G	XP_011520836.1:p.Ser2361Cys
XM_011522535.1:c.5168C>G	XP_011520837.1:p.Ser1723Cys
XM_011522536.1:c.7346C>G	XP_011520838.1:p.Ser2449Cys
XM_011522537.1:c.4346C>G	XP_011520839.1:p.Ser1449Cys
XR_932867.1:n.7361C>G
XR_932868.1:n.7361C>G
XR_932869.1:n.7361C>G
XR_932870.1:n.7361C>G
XM_005255370.3:c.4223C>G	XP_005255427.1:p.Ser1408Cys
XM_011522528.3:c.7322C>G	XP_011520830.1:p.Ser2441Cys
XM_011522529.2:c.7322C>G	XP_011520831.1:p.Ser2441Cys
XM_011522537.2:c.4346C>G	XP_011520839.1:p.Ser1449Cys
XM_024450298.1:c.7388C>G	XP_024306066.1:p.Ser2463Cys
XM_024450299.1:c.7316C>G	XP_024306067.1:p.Ser2439Cys
XM_024450300.1:c.7178C>G	XP_024306068.1:p.Ser2393Cys
XM_024450301.1:c.5264C>G	XP_024306069.1:p.Ser1755Cys
NM_000296.4:c.7268C>G	NP_000287.4:p.Ser2423Cys
NM_001009944.3:c.7268C>G MANE Select	NP_001009944.3:p.Ser2423Cys