Canonical Allele Identifier: CA394371051

Gene: PKD1

Linked Data

• ClinVar Variation Id: 433981
• ClinVar RCV Id: RCV000500754
• dbSNP Id: rs1555453210
• gnomAD v4: 16-2106622-G-T
• MyVariant Identifiers: chr16:g.2156623G>T (hg19) ; chr16:g.2106622G>T (hg38)
• PubMed: PMID:18837007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106622G>T , CM000678.2:g.2106622G>T	GRCh38
NC_000016.9:g.2156623G>T , CM000678.1:g.2156623G>T	GRCh37
NC_000016.8:g.2096624G>T	NCBI36
NG_008617.1:g.34277C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7265C>A MANE Select	ENSP00000262304.4:p.Thr2422Lys
ENST00000262304.8:c.7265C>A	ENSP00000262304.4:p.Thr2422Lys
ENST00000415938.7:n.510C>A
ENST00000423118.5:c.7265C>A	ENSP00000399501.1:p.Thr2422Lys
ENST00000483024.1:c.433C>A
ENST00000483558.5:n.324C>A
ENST00000483731.5:n.990C>A
ENST00000486339.6:n.1011C>A
ENST00000487932.5:c.1952C>A	ENSP00000457132.1:p.Thr651Lys
ENST00000496574.6:n.1268C>A
ENST00000565639.6:n.973C>A
ENST00000568591.5:c.2426C>A	ENSP00000457162.1:n.2426C>A
ENST00000569983.5:n.621C>A
NM_000296.3:c.7265C>A	NP_000287.3:p.Thr2422Lys
NM_001009944.2:c.7265C>A	NP_001009944.2:p.Thr2422Lys
XM_005255370.2:c.4220C>A	XP_005255427.1:p.Thr1407Lys
XM_011522525.1:c.7343C>A	XP_011520827.1:p.Thr2448Lys
XM_011522526.1:c.7343C>A	XP_011520828.1:p.Thr2448Lys
XM_011522527.1:c.7343C>A	XP_011520829.1:p.Thr2448Lys
XM_011522528.1:c.7319C>A	XP_011520830.1:p.Thr2440Lys
XM_011522529.1:c.7319C>A	XP_011520831.1:p.Thr2440Lys
XM_011522530.1:c.7289C>A	XP_011520832.1:p.Thr2430Lys
XM_011522531.1:c.7271C>A	XP_011520833.1:p.Thr2424Lys
XM_011522532.1:c.7217C>A	XP_011520834.1:p.Thr2406Lys
XM_011522533.1:c.7136C>A	XP_011520835.1:p.Thr2379Lys
XM_011522534.1:c.7079C>A	XP_011520836.1:p.Thr2360Lys
XM_011522535.1:c.5165C>A	XP_011520837.1:p.Thr1722Lys
XM_011522536.1:c.7343C>A	XP_011520838.1:p.Thr2448Lys
XM_011522537.1:c.4343C>A	XP_011520839.1:p.Thr1448Lys
XR_932867.1:n.7358C>A
XR_932868.1:n.7358C>A
XR_932869.1:n.7358C>A
XR_932870.1:n.7358C>A
XM_005255370.3:c.4220C>A	XP_005255427.1:p.Thr1407Lys
XM_011522528.3:c.7319C>A	XP_011520830.1:p.Thr2440Lys
XM_011522529.2:c.7319C>A	XP_011520831.1:p.Thr2440Lys
XM_011522537.2:c.4343C>A	XP_011520839.1:p.Thr1448Lys
XM_024450298.1:c.7385C>A	XP_024306066.1:p.Thr2462Lys
XM_024450299.1:c.7313C>A	XP_024306067.1:p.Thr2438Lys
XM_024450300.1:c.7175C>A	XP_024306068.1:p.Thr2392Lys
XM_024450301.1:c.5261C>A	XP_024306069.1:p.Thr1754Lys
NM_000296.4:c.7265C>A	NP_000287.4:p.Thr2422Lys
NM_001009944.3:c.7265C>A MANE Select	NP_001009944.3:p.Thr2422Lys