Canonical Allele Identifier: CA394382822

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111589-A-C
• MyVariant Identifiers: chr16:g.2161590A>C (hg19) ; chr16:g.2111589A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111589A>C , CM000678.2:g.2111589A>C	GRCh38
NC_000016.9:g.2161590A>C , CM000678.1:g.2161590A>C	GRCh37
NC_000016.8:g.2101591A>C	NCBI36
NG_008617.1:g.29310T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3578T>G MANE Select	ENSP00000262304.4:p.Val1193Gly
ENST00000262304.8:c.3578T>G	ENSP00000262304.4:p.Val1193Gly
ENST00000415938.7:n.310+751T>G
ENST00000423118.5:c.3578T>G	ENSP00000399501.1:p.Val1193Gly
ENST00000468674.5:n.430+751T>G
ENST00000469241.2:n.528T>G
ENST00000483024.1:c.233+227T>G
ENST00000483731.5:n.790+751T>G
ENST00000488185.2:c.473-3231T>G
ENST00000565639.6:n.773+751T>G
ENST00000568591.5:c.2226+751T>G	ENSP00000457162.1:n.2226+751T>G
ENST00000569983.5:n.421+751T>G
NM_000296.3:c.3578T>G	NP_000287.3:p.Val1193Gly
NM_001009944.2:c.3578T>G	NP_001009944.2:p.Val1193Gly
XM_005255370.2:c.533T>G	XP_005255427.1:p.Val178Gly
XM_011522525.1:c.3656T>G	XP_011520827.1:p.Val1219Gly
XM_011522526.1:c.3656T>G	XP_011520828.1:p.Val1219Gly
XM_011522527.1:c.3656T>G	XP_011520829.1:p.Val1219Gly
XM_011522528.1:c.3632T>G	XP_011520830.1:p.Val1211Gly
XM_011522529.1:c.3632T>G	XP_011520831.1:p.Val1211Gly
XM_011522530.1:c.3602T>G	XP_011520832.1:p.Val1201Gly
XM_011522531.1:c.3584T>G	XP_011520833.1:p.Val1195Gly
XM_011522532.1:c.3530T>G	XP_011520834.1:p.Val1177Gly
XM_011522533.1:c.3449T>G	XP_011520835.1:p.Val1150Gly
XM_011522534.1:c.3392T>G	XP_011520836.1:p.Val1131Gly
XM_011522535.1:c.1478T>G	XP_011520837.1:p.Val493Gly
XM_011522536.1:c.3656T>G	XP_011520838.1:p.Val1219Gly
XM_011522537.1:c.656T>G	XP_011520839.1:p.Val219Gly
XR_932867.1:n.3671T>G
XR_932868.1:n.3671T>G
XR_932869.1:n.3671T>G
XR_932870.1:n.3671T>G
XM_005255370.3:c.533T>G	XP_005255427.1:p.Val178Gly
XM_011522528.3:c.3632T>G	XP_011520830.1:p.Val1211Gly
XM_011522529.2:c.3632T>G	XP_011520831.1:p.Val1211Gly
XM_011522537.2:c.656T>G	XP_011520839.1:p.Val219Gly
XM_024450298.1:c.3698T>G	XP_024306066.1:p.Val1233Gly
XM_024450299.1:c.3626T>G	XP_024306067.1:p.Val1209Gly
XM_024450300.1:c.3488T>G	XP_024306068.1:p.Val1163Gly
XM_024450301.1:c.1574T>G	XP_024306069.1:p.Val525Gly
NM_000296.4:c.3578T>G	NP_000287.4:p.Val1193Gly
NM_001009944.3:c.3578T>G MANE Select	NP_001009944.3:p.Val1193Gly