Canonical Allele Identifier: CA7831170

Gene: PKD1

Linked Data

• ClinVar Variation Id: 3031973
• ClinVar RCV Id: RCV003899709
• dbSNP Id: rs2258975
• ExAC: 16:2156544 G / C
• gnomAD v2: 16-2156544-G-C
• gnomAD v3: 16-2106543-G-C
• gnomAD v4: 16-2106543-G-C
• MyVariant Identifiers: chr16:g.2156544G>C (hg19) ; chr16:g.2106543G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106543G>C , CM000678.2:g.2106543G>C	GRCh38
NC_000016.9:g.2156544G>C , CM000678.1:g.2156544G>C	GRCh37
NC_000016.8:g.2096545G>C	NCBI36
NG_008617.1:g.34356C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7344C>G MANE Select	ENSP00000262304.4:p.Leu2448=
ENST00000262304.8:c.7344C>G	ENSP00000262304.4:p.Leu2448=
ENST00000415938.7:n.589C>G
ENST00000423118.5:c.7344C>G	ENSP00000399501.1:p.Leu2448=
ENST00000483558.5:n.403C>G
ENST00000483731.5:n.1069C>G
ENST00000486339.6:n.1090C>G
ENST00000487932.5:c.2031C>G	ENSP00000457132.1:p.Leu677=
ENST00000496574.6:n.1347C>G
ENST00000565639.6:n.1052C>G
ENST00000568591.5:c.2505C>G	ENSP00000457162.1:n.2505C>G
ENST00000569983.5:n.700C>G
NM_000296.3:c.7344C>G	NP_000287.3:p.Leu2448=
NM_001009944.2:c.7344C>G	NP_001009944.2:p.Leu2448=
XM_005255370.2:c.4299C>G	XP_005255427.1:p.Leu1433=
XM_011522525.1:c.7422C>G	XP_011520827.1:p.Leu2474=
XM_011522526.1:c.7422C>G	XP_011520828.1:p.Leu2474=
XM_011522527.1:c.7422C>G	XP_011520829.1:p.Leu2474=
XM_011522528.1:c.7398C>G	XP_011520830.1:p.Leu2466=
XM_011522529.1:c.7398C>G	XP_011520831.1:p.Leu2466=
XM_011522530.1:c.7368C>G	XP_011520832.1:p.Leu2456=
XM_011522531.1:c.7350C>G	XP_011520833.1:p.Leu2450=
XM_011522532.1:c.7296C>G	XP_011520834.1:p.Leu2432=
XM_011522533.1:c.7215C>G	XP_011520835.1:p.Leu2405=
XM_011522534.1:c.7158C>G	XP_011520836.1:p.Leu2386=
XM_011522535.1:c.5244C>G	XP_011520837.1:p.Leu1748=
XM_011522536.1:c.7422C>G	XP_011520838.1:p.Leu2474=
XM_011522537.1:c.4422C>G	XP_011520839.1:p.Leu1474=
XR_932867.1:n.7437C>G
XR_932868.1:n.7437C>G
XR_932869.1:n.7437C>G
XR_932870.1:n.7437C>G
XM_005255370.3:c.4299C>G	XP_005255427.1:p.Leu1433=
XM_011522528.3:c.7398C>G	XP_011520830.1:p.Leu2466=
XM_011522529.2:c.7398C>G	XP_011520831.1:p.Leu2466=
XM_011522537.2:c.4422C>G	XP_011520839.1:p.Leu1474=
XM_024450298.1:c.7464C>G	XP_024306066.1:p.Leu2488=
XM_024450299.1:c.7392C>G	XP_024306067.1:p.Leu2464=
XM_024450300.1:c.7254C>G	XP_024306068.1:p.Leu2418=
XM_024450301.1:c.5340C>G	XP_024306069.1:p.Leu1780=
NM_000296.4:c.7344C>G	NP_000287.4:p.Leu2448=
NM_001009944.3:c.7344C>G MANE Select	NP_001009944.3:p.Leu2448=