Canonical Allele Identifier: CA493046893

Gene: PKD1

Linked Data

• dbSNP Id: rs1237014946
• gnomAD v2: 16-2156628-G-T
• gnomAD v3: 16-2106627-G-T
• gnomAD v4: 16-2106627-G-T
• MyVariant Identifiers: chr16:g.2156628G>T (hg19) ; chr16:g.2106627G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106627G>T , CM000678.2:g.2106627G>T	GRCh38
NC_000016.9:g.2156628G>T , CM000678.1:g.2156628G>T	GRCh37
NC_000016.8:g.2096629G>T	NCBI36
NG_008617.1:g.34272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7260C>A MANE Select	ENSP00000262304.4:p.Thr2420=
ENST00000262304.8:c.7260C>A	ENSP00000262304.4:p.Thr2420=
ENST00000415938.7:n.505C>A
ENST00000423118.5:c.7260C>A	ENSP00000399501.1:p.Thr2420=
ENST00000483024.1:c.428C>A
ENST00000483558.5:n.319C>A
ENST00000483731.5:n.985C>A
ENST00000486339.6:n.1006C>A
ENST00000487932.5:c.1947C>A	ENSP00000457132.1:p.Thr649=
ENST00000496574.6:n.1263C>A
ENST00000565639.6:n.968C>A
ENST00000568591.5:c.2421C>A	ENSP00000457162.1:n.2421C>A
ENST00000569983.5:n.616C>A
NM_000296.3:c.7260C>A	NP_000287.3:p.Thr2420=
NM_001009944.2:c.7260C>A	NP_001009944.2:p.Thr2420=
XM_005255370.2:c.4215C>A	XP_005255427.1:p.Thr1405=
XM_011522525.1:c.7338C>A	XP_011520827.1:p.Thr2446=
XM_011522526.1:c.7338C>A	XP_011520828.1:p.Thr2446=
XM_011522527.1:c.7338C>A	XP_011520829.1:p.Thr2446=
XM_011522528.1:c.7314C>A	XP_011520830.1:p.Thr2438=
XM_011522529.1:c.7314C>A	XP_011520831.1:p.Thr2438=
XM_011522530.1:c.7284C>A	XP_011520832.1:p.Thr2428=
XM_011522531.1:c.7266C>A	XP_011520833.1:p.Thr2422=
XM_011522532.1:c.7212C>A	XP_011520834.1:p.Thr2404=
XM_011522533.1:c.7131C>A	XP_011520835.1:p.Thr2377=
XM_011522534.1:c.7074C>A	XP_011520836.1:p.Thr2358=
XM_011522535.1:c.5160C>A	XP_011520837.1:p.Thr1720=
XM_011522536.1:c.7338C>A	XP_011520838.1:p.Thr2446=
XM_011522537.1:c.4338C>A	XP_011520839.1:p.Thr1446=
XR_932867.1:n.7353C>A
XR_932868.1:n.7353C>A
XR_932869.1:n.7353C>A
XR_932870.1:n.7353C>A
XM_005255370.3:c.4215C>A	XP_005255427.1:p.Thr1405=
XM_011522528.3:c.7314C>A	XP_011520830.1:p.Thr2438=
XM_011522529.2:c.7314C>A	XP_011520831.1:p.Thr2438=
XM_011522537.2:c.4338C>A	XP_011520839.1:p.Thr1446=
XM_024450298.1:c.7380C>A	XP_024306066.1:p.Thr2460=
XM_024450299.1:c.7308C>A	XP_024306067.1:p.Thr2436=
XM_024450300.1:c.7170C>A	XP_024306068.1:p.Thr2390=
XM_024450301.1:c.5256C>A	XP_024306069.1:p.Thr1752=
NM_000296.4:c.7260C>A	NP_000287.4:p.Thr2420=
NM_001009944.3:c.7260C>A MANE Select	NP_001009944.3:p.Thr2420=