Canonical Allele Identifier: CA493046749

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156559T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106558T>A , CM000678.2:g.2106558T>A	GRCh38
NC_000016.9:g.2156559T>A , CM000678.1:g.2156559T>A	GRCh37
NC_000016.8:g.2096560T>A	NCBI36
NG_008617.1:g.34341A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7329A>T MANE Select	ENSP00000262304.4:p.Gly2443=
ENST00000262304.8:c.7329A>T	ENSP00000262304.4:p.Gly2443=
ENST00000415938.7:n.574A>T
ENST00000423118.5:c.7329A>T	ENSP00000399501.1:p.Gly2443=
ENST00000483558.5:n.388A>T
ENST00000483731.5:n.1054A>T
ENST00000486339.6:n.1075A>T
ENST00000487932.5:c.2016A>T	ENSP00000457132.1:p.Gly672=
ENST00000496574.6:n.1332A>T
ENST00000565639.6:n.1037A>T
ENST00000568591.5:c.2490A>T	ENSP00000457162.1:n.2490A>T
ENST00000569983.5:n.685A>T
NM_000296.3:c.7329A>T	NP_000287.3:p.Gly2443=
NM_001009944.2:c.7329A>T	NP_001009944.2:p.Gly2443=
XM_005255370.2:c.4284A>T	XP_005255427.1:p.Gly1428=
XM_011522525.1:c.7407A>T	XP_011520827.1:p.Gly2469=
XM_011522526.1:c.7407A>T	XP_011520828.1:p.Gly2469=
XM_011522527.1:c.7407A>T	XP_011520829.1:p.Gly2469=
XM_011522528.1:c.7383A>T	XP_011520830.1:p.Gly2461=
XM_011522529.1:c.7383A>T	XP_011520831.1:p.Gly2461=
XM_011522530.1:c.7353A>T	XP_011520832.1:p.Gly2451=
XM_011522531.1:c.7335A>T	XP_011520833.1:p.Gly2445=
XM_011522532.1:c.7281A>T	XP_011520834.1:p.Gly2427=
XM_011522533.1:c.7200A>T	XP_011520835.1:p.Gly2400=
XM_011522534.1:c.7143A>T	XP_011520836.1:p.Gly2381=
XM_011522535.1:c.5229A>T	XP_011520837.1:p.Gly1743=
XM_011522536.1:c.7407A>T	XP_011520838.1:p.Gly2469=
XM_011522537.1:c.4407A>T	XP_011520839.1:p.Gly1469=
XR_932867.1:n.7422A>T
XR_932868.1:n.7422A>T
XR_932869.1:n.7422A>T
XR_932870.1:n.7422A>T
XM_005255370.3:c.4284A>T	XP_005255427.1:p.Gly1428=
XM_011522528.3:c.7383A>T	XP_011520830.1:p.Gly2461=
XM_011522529.2:c.7383A>T	XP_011520831.1:p.Gly2461=
XM_011522537.2:c.4407A>T	XP_011520839.1:p.Gly1469=
XM_024450298.1:c.7449A>T	XP_024306066.1:p.Gly2483=
XM_024450299.1:c.7377A>T	XP_024306067.1:p.Gly2459=
XM_024450300.1:c.7239A>T	XP_024306068.1:p.Gly2413=
XM_024450301.1:c.5325A>T	XP_024306069.1:p.Gly1775=
NM_000296.4:c.7329A>T	NP_000287.4:p.Gly2443=
NM_001009944.3:c.7329A>T MANE Select	NP_001009944.3:p.Gly2443=