Canonical Allele Identifier: CA7831174

Gene: PKD1

Linked Data

• ClinVar Variation Id: 812023
• ClinVar RCV Id: RCV001002583 ; RCV003953428
• dbSNP Id: rs760315179
• ExAC: 16:2156548 G / A
• gnomAD v2: 16-2156548-G-A
• gnomAD v3: 16-2106547-G-A
• gnomAD v4: 16-2106547-G-A
• MyVariant Identifiers: chr16:g.2156548G>A (hg19) ; chr16:g.2106547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106547G>A , CM000678.2:g.2106547G>A	GRCh38
NC_000016.9:g.2156548G>A , CM000678.1:g.2156548G>A	GRCh37
NC_000016.8:g.2096549G>A	NCBI36
NG_008617.1:g.34352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7340C>T MANE Select	ENSP00000262304.4:p.Thr2447Met
ENST00000262304.8:c.7340C>T	ENSP00000262304.4:p.Thr2447Met
ENST00000415938.7:n.585C>T
ENST00000423118.5:c.7340C>T	ENSP00000399501.1:p.Thr2447Met
ENST00000483558.5:n.399C>T
ENST00000483731.5:n.1065C>T
ENST00000486339.6:n.1086C>T
ENST00000487932.5:c.2027C>T	ENSP00000457132.1:p.Thr676Met
ENST00000496574.6:n.1343C>T
ENST00000565639.6:n.1048C>T
ENST00000568591.5:c.2501C>T	ENSP00000457162.1:n.2501C>T
ENST00000569983.5:n.696C>T
NM_000296.3:c.7340C>T	NP_000287.3:p.Thr2447Met
NM_001009944.2:c.7340C>T	NP_001009944.2:p.Thr2447Met
XM_005255370.2:c.4295C>T	XP_005255427.1:p.Thr1432Met
XM_011522525.1:c.7418C>T	XP_011520827.1:p.Thr2473Met
XM_011522526.1:c.7418C>T	XP_011520828.1:p.Thr2473Met
XM_011522527.1:c.7418C>T	XP_011520829.1:p.Thr2473Met
XM_011522528.1:c.7394C>T	XP_011520830.1:p.Thr2465Met
XM_011522529.1:c.7394C>T	XP_011520831.1:p.Thr2465Met
XM_011522530.1:c.7364C>T	XP_011520832.1:p.Thr2455Met
XM_011522531.1:c.7346C>T	XP_011520833.1:p.Thr2449Met
XM_011522532.1:c.7292C>T	XP_011520834.1:p.Thr2431Met
XM_011522533.1:c.7211C>T	XP_011520835.1:p.Thr2404Met
XM_011522534.1:c.7154C>T	XP_011520836.1:p.Thr2385Met
XM_011522535.1:c.5240C>T	XP_011520837.1:p.Thr1747Met
XM_011522536.1:c.7418C>T	XP_011520838.1:p.Thr2473Met
XM_011522537.1:c.4418C>T	XP_011520839.1:p.Thr1473Met
XR_932867.1:n.7433C>T
XR_932868.1:n.7433C>T
XR_932869.1:n.7433C>T
XR_932870.1:n.7433C>T
XM_005255370.3:c.4295C>T	XP_005255427.1:p.Thr1432Met
XM_011522528.3:c.7394C>T	XP_011520830.1:p.Thr2465Met
XM_011522529.2:c.7394C>T	XP_011520831.1:p.Thr2465Met
XM_011522537.2:c.4418C>T	XP_011520839.1:p.Thr1473Met
XM_024450298.1:c.7460C>T	XP_024306066.1:p.Thr2487Met
XM_024450299.1:c.7388C>T	XP_024306067.1:p.Thr2463Met
XM_024450300.1:c.7250C>T	XP_024306068.1:p.Thr2417Met
XM_024450301.1:c.5336C>T	XP_024306069.1:p.Thr1779Met
NM_000296.4:c.7340C>T	NP_000287.4:p.Thr2447Met
NM_001009944.3:c.7340C>T MANE Select	NP_001009944.3:p.Thr2447Met