Canonical Allele Identifier: CA394371075

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106628-G-A
• MyVariant Identifiers: chr16:g.2156629G>A (hg19) ; chr16:g.2106628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106628G>A , CM000678.2:g.2106628G>A	GRCh38
NC_000016.9:g.2156629G>A , CM000678.1:g.2156629G>A	GRCh37
NC_000016.8:g.2096630G>A	NCBI36
NG_008617.1:g.34271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7259C>T MANE Select	ENSP00000262304.4:p.Thr2420Ile
ENST00000262304.8:c.7259C>T	ENSP00000262304.4:p.Thr2420Ile
ENST00000415938.7:n.504C>T
ENST00000423118.5:c.7259C>T	ENSP00000399501.1:p.Thr2420Ile
ENST00000483024.1:c.427C>T
ENST00000483558.5:n.318C>T
ENST00000483731.5:n.984C>T
ENST00000486339.6:n.1005C>T
ENST00000487932.5:c.1946C>T	ENSP00000457132.1:p.Thr649Ile
ENST00000496574.6:n.1262C>T
ENST00000565639.6:n.967C>T
ENST00000568591.5:c.2420C>T	ENSP00000457162.1:n.2420C>T
ENST00000569983.5:n.615C>T
NM_000296.3:c.7259C>T	NP_000287.3:p.Thr2420Ile
NM_001009944.2:c.7259C>T	NP_001009944.2:p.Thr2420Ile
XM_005255370.2:c.4214C>T	XP_005255427.1:p.Thr1405Ile
XM_011522525.1:c.7337C>T	XP_011520827.1:p.Thr2446Ile
XM_011522526.1:c.7337C>T	XP_011520828.1:p.Thr2446Ile
XM_011522527.1:c.7337C>T	XP_011520829.1:p.Thr2446Ile
XM_011522528.1:c.7313C>T	XP_011520830.1:p.Thr2438Ile
XM_011522529.1:c.7313C>T	XP_011520831.1:p.Thr2438Ile
XM_011522530.1:c.7283C>T	XP_011520832.1:p.Thr2428Ile
XM_011522531.1:c.7265C>T	XP_011520833.1:p.Thr2422Ile
XM_011522532.1:c.7211C>T	XP_011520834.1:p.Thr2404Ile
XM_011522533.1:c.7130C>T	XP_011520835.1:p.Thr2377Ile
XM_011522534.1:c.7073C>T	XP_011520836.1:p.Thr2358Ile
XM_011522535.1:c.5159C>T	XP_011520837.1:p.Thr1720Ile
XM_011522536.1:c.7337C>T	XP_011520838.1:p.Thr2446Ile
XM_011522537.1:c.4337C>T	XP_011520839.1:p.Thr1446Ile
XR_932867.1:n.7352C>T
XR_932868.1:n.7352C>T
XR_932869.1:n.7352C>T
XR_932870.1:n.7352C>T
XM_005255370.3:c.4214C>T	XP_005255427.1:p.Thr1405Ile
XM_011522528.3:c.7313C>T	XP_011520830.1:p.Thr2438Ile
XM_011522529.2:c.7313C>T	XP_011520831.1:p.Thr2438Ile
XM_011522537.2:c.4337C>T	XP_011520839.1:p.Thr1446Ile
XM_024450298.1:c.7379C>T	XP_024306066.1:p.Thr2460Ile
XM_024450299.1:c.7307C>T	XP_024306067.1:p.Thr2436Ile
XM_024450300.1:c.7169C>T	XP_024306068.1:p.Thr2390Ile
XM_024450301.1:c.5255C>T	XP_024306069.1:p.Thr1752Ile
NM_000296.4:c.7259C>T	NP_000287.4:p.Thr2420Ile
NM_001009944.3:c.7259C>T MANE Select	NP_001009944.3:p.Thr2420Ile