Canonical Allele Identifier: CA394370413

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106602-T-C
• MyVariant Identifiers: chr16:g.2156603T>C (hg19) ; chr16:g.2106602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106602T>C , CM000678.2:g.2106602T>C	GRCh38
NC_000016.9:g.2156603T>C , CM000678.1:g.2156603T>C	GRCh37
NC_000016.8:g.2096604T>C	NCBI36
NG_008617.1:g.34297A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7285A>G MANE Select	ENSP00000262304.4:p.Met2429Val
ENST00000262304.8:c.7285A>G	ENSP00000262304.4:p.Met2429Val
ENST00000415938.7:n.530A>G
ENST00000423118.5:c.7285A>G	ENSP00000399501.1:p.Met2429Val
ENST00000483024.1:c.453A>G
ENST00000483558.5:n.344A>G
ENST00000483731.5:n.1010A>G
ENST00000486339.6:n.1031A>G
ENST00000487932.5:c.1972A>G	ENSP00000457132.1:p.Met658Val
ENST00000496574.6:n.1288A>G
ENST00000565639.6:n.993A>G
ENST00000568591.5:c.2446A>G	ENSP00000457162.1:n.2446A>G
ENST00000569983.5:n.641A>G
NM_000296.3:c.7285A>G	NP_000287.3:p.Met2429Val
NM_001009944.2:c.7285A>G	NP_001009944.2:p.Met2429Val
XM_005255370.2:c.4240A>G	XP_005255427.1:p.Met1414Val
XM_011522525.1:c.7363A>G	XP_011520827.1:p.Met2455Val
XM_011522526.1:c.7363A>G	XP_011520828.1:p.Met2455Val
XM_011522527.1:c.7363A>G	XP_011520829.1:p.Met2455Val
XM_011522528.1:c.7339A>G	XP_011520830.1:p.Met2447Val
XM_011522529.1:c.7339A>G	XP_011520831.1:p.Met2447Val
XM_011522530.1:c.7309A>G	XP_011520832.1:p.Met2437Val
XM_011522531.1:c.7291A>G	XP_011520833.1:p.Met2431Val
XM_011522532.1:c.7237A>G	XP_011520834.1:p.Met2413Val
XM_011522533.1:c.7156A>G	XP_011520835.1:p.Met2386Val
XM_011522534.1:c.7099A>G	XP_011520836.1:p.Met2367Val
XM_011522535.1:c.5185A>G	XP_011520837.1:p.Met1729Val
XM_011522536.1:c.7363A>G	XP_011520838.1:p.Met2455Val
XM_011522537.1:c.4363A>G	XP_011520839.1:p.Met1455Val
XR_932867.1:n.7378A>G
XR_932868.1:n.7378A>G
XR_932869.1:n.7378A>G
XR_932870.1:n.7378A>G
XM_005255370.3:c.4240A>G	XP_005255427.1:p.Met1414Val
XM_011522528.3:c.7339A>G	XP_011520830.1:p.Met2447Val
XM_011522529.2:c.7339A>G	XP_011520831.1:p.Met2447Val
XM_011522537.2:c.4363A>G	XP_011520839.1:p.Met1455Val
XM_024450298.1:c.7405A>G	XP_024306066.1:p.Met2469Val
XM_024450299.1:c.7333A>G	XP_024306067.1:p.Met2445Val
XM_024450300.1:c.7195A>G	XP_024306068.1:p.Met2399Val
XM_024450301.1:c.5281A>G	XP_024306069.1:p.Met1761Val
NM_000296.4:c.7285A>G	NP_000287.4:p.Met2429Val
NM_001009944.3:c.7285A>G MANE Select	NP_001009944.3:p.Met2429Val