Canonical Allele Identifier: CA394371045

Gene: PKD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7267T>G MANE Select	ENSP00000262304.4:p.Ser2423Ala
ENST00000262304.8:c.7267T>G	ENSP00000262304.4:p.Ser2423Ala
ENST00000415938.7:n.512T>G
ENST00000423118.5:c.7267T>G	ENSP00000399501.1:p.Ser2423Ala
ENST00000483024.1:c.435T>G
ENST00000483558.5:n.326T>G
ENST00000483731.5:n.992T>G
ENST00000486339.6:n.1013T>G
ENST00000487932.5:c.1954T>G	ENSP00000457132.1:p.Ser652Ala
ENST00000496574.6:n.1270T>G
ENST00000565639.6:n.975T>G
ENST00000568591.5:c.2428T>G	ENSP00000457162.1:n.2428T>G
ENST00000569983.5:n.623T>G
NM_000296.3:c.7267T>G	NP_000287.3:p.Ser2423Ala
NM_001009944.2:c.7267T>G	NP_001009944.2:p.Ser2423Ala
XM_005255370.2:c.4222T>G	XP_005255427.1:p.Ser1408Ala
XM_011522525.1:c.7345T>G	XP_011520827.1:p.Ser2449Ala
XM_011522526.1:c.7345T>G	XP_011520828.1:p.Ser2449Ala
XM_011522527.1:c.7345T>G	XP_011520829.1:p.Ser2449Ala
XM_011522528.1:c.7321T>G	XP_011520830.1:p.Ser2441Ala
XM_011522529.1:c.7321T>G	XP_011520831.1:p.Ser2441Ala
XM_011522530.1:c.7291T>G	XP_011520832.1:p.Ser2431Ala
XM_011522531.1:c.7273T>G	XP_011520833.1:p.Ser2425Ala
XM_011522532.1:c.7219T>G	XP_011520834.1:p.Ser2407Ala
XM_011522533.1:c.7138T>G	XP_011520835.1:p.Ser2380Ala
XM_011522534.1:c.7081T>G	XP_011520836.1:p.Ser2361Ala
XM_011522535.1:c.5167T>G	XP_011520837.1:p.Ser1723Ala
XM_011522536.1:c.7345T>G	XP_011520838.1:p.Ser2449Ala
XM_011522537.1:c.4345T>G	XP_011520839.1:p.Ser1449Ala
XR_932867.1:n.7360T>G
XR_932868.1:n.7360T>G
XR_932869.1:n.7360T>G
XR_932870.1:n.7360T>G
XM_005255370.3:c.4222T>G	XP_005255427.1:p.Ser1408Ala
XM_011522528.3:c.7321T>G	XP_011520830.1:p.Ser2441Ala
XM_011522529.2:c.7321T>G	XP_011520831.1:p.Ser2441Ala
XM_011522537.2:c.4345T>G	XP_011520839.1:p.Ser1449Ala
XM_024450298.1:c.7387T>G	XP_024306066.1:p.Ser2463Ala
XM_024450299.1:c.7315T>G	XP_024306067.1:p.Ser2439Ala
XM_024450300.1:c.7177T>G	XP_024306068.1:p.Ser2393Ala
XM_024450301.1:c.5263T>G	XP_024306069.1:p.Ser1755Ala
NM_000296.4:c.7267T>G	NP_000287.4:p.Ser2423Ala
NM_001009944.3:c.7267T>G MANE Select	NP_001009944.3:p.Ser2423Ala