Canonical Allele Identifier: CA394370026

Gene: PKD1

Linked Data

• dbSNP Id: rs751740953
• gnomAD v3: 16-2106526-G-C
• gnomAD v4: 16-2106526-G-C
• MyVariant Identifiers: chr16:g.2156527G>C (hg19) ; chr16:g.2106526G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106526G>C , CM000678.2:g.2106526G>C	GRCh38
NC_000016.9:g.2156527G>C , CM000678.1:g.2156527G>C	GRCh37
NC_000016.8:g.2096528G>C	NCBI36
NG_008617.1:g.34373C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7361C>G MANE Select	ENSP00000262304.4:p.Ser2454Cys
ENST00000262304.8:c.7361C>G	ENSP00000262304.4:p.Ser2454Cys
ENST00000415938.7:n.606C>G
ENST00000423118.5:c.7361C>G	ENSP00000399501.1:p.Ser2454Cys
ENST00000483558.5:n.420C>G
ENST00000483731.5:n.1086C>G
ENST00000486339.6:n.1107C>G
ENST00000487932.5:c.2048C>G	ENSP00000457132.1:p.Ser683Cys
ENST00000496574.6:n.1364C>G
ENST00000565639.6:n.1069C>G
ENST00000568591.5:c.2522C>G	ENSP00000457162.1:n.2522C>G
ENST00000569983.5:n.717C>G
NM_000296.3:c.7361C>G	NP_000287.3:p.Ser2454Cys
NM_001009944.2:c.7361C>G	NP_001009944.2:p.Ser2454Cys
XM_005255370.2:c.4316C>G	XP_005255427.1:p.Ser1439Cys
XM_011522525.1:c.7439C>G	XP_011520827.1:p.Ser2480Cys
XM_011522526.1:c.7439C>G	XP_011520828.1:p.Ser2480Cys
XM_011522527.1:c.7439C>G	XP_011520829.1:p.Ser2480Cys
XM_011522528.1:c.7415C>G	XP_011520830.1:p.Ser2472Cys
XM_011522529.1:c.7415C>G	XP_011520831.1:p.Ser2472Cys
XM_011522530.1:c.7385C>G	XP_011520832.1:p.Ser2462Cys
XM_011522531.1:c.7367C>G	XP_011520833.1:p.Ser2456Cys
XM_011522532.1:c.7313C>G	XP_011520834.1:p.Ser2438Cys
XM_011522533.1:c.7232C>G	XP_011520835.1:p.Ser2411Cys
XM_011522534.1:c.7175C>G	XP_011520836.1:p.Ser2392Cys
XM_011522535.1:c.5261C>G	XP_011520837.1:p.Ser1754Cys
XM_011522536.1:c.7439C>G	XP_011520838.1:p.Ser2480Cys
XM_011522537.1:c.4439C>G	XP_011520839.1:p.Ser1480Cys
XR_932867.1:n.7454C>G
XR_932868.1:n.7454C>G
XR_932869.1:n.7454C>G
XR_932870.1:n.7454C>G
XM_005255370.3:c.4316C>G	XP_005255427.1:p.Ser1439Cys
XM_011522528.3:c.7415C>G	XP_011520830.1:p.Ser2472Cys
XM_011522529.2:c.7415C>G	XP_011520831.1:p.Ser2472Cys
XM_011522537.2:c.4439C>G	XP_011520839.1:p.Ser1480Cys
XM_024450298.1:c.7481C>G	XP_024306066.1:p.Ser2494Cys
XM_024450299.1:c.7409C>G	XP_024306067.1:p.Ser2470Cys
XM_024450300.1:c.7271C>G	XP_024306068.1:p.Ser2424Cys
XM_024450301.1:c.5357C>G	XP_024306069.1:p.Ser1786Cys
NM_000296.4:c.7361C>G	NP_000287.4:p.Ser2454Cys
NM_001009944.3:c.7361C>G MANE Select	NP_001009944.3:p.Ser2454Cys