Canonical Allele Identifier: CA493047579

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159729T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109728T>A , CM000678.2:g.2109728T>A	GRCh38
NC_000016.9:g.2159729T>A , CM000678.1:g.2159729T>A	GRCh37
NC_000016.8:g.2099730T>A	NCBI36
NG_008617.1:g.31171A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5439A>T MANE Select	ENSP00000262304.4:p.Gly1813=
ENST00000262304.8:c.5439A>T	ENSP00000262304.4:p.Gly1813=
ENST00000415938.7:n.310+2612A>T
ENST00000423118.5:c.5439A>T	ENSP00000399501.1:p.Gly1813=
ENST00000468674.5:n.431-378A>T
ENST00000483024.1:c.233+2088A>T
ENST00000483731.5:n.790+2612A>T
ENST00000487932.5:c.126A>T	ENSP00000457132.1:p.Gly42=
ENST00000488185.2:c.473-1370A>T
ENST00000565639.6:n.773+2612A>T
ENST00000568591.5:c.2226+2612A>T	ENSP00000457162.1:n.2226+2612A>T
ENST00000569983.5:n.421+2612A>T
NM_000296.3:c.5439A>T	NP_000287.3:p.Gly1813=
NM_001009944.2:c.5439A>T	NP_001009944.2:p.Gly1813=
XM_005255370.2:c.2394A>T	XP_005255427.1:p.Gly798=
XM_011522525.1:c.5517A>T	XP_011520827.1:p.Gly1839=
XM_011522526.1:c.5517A>T	XP_011520828.1:p.Gly1839=
XM_011522527.1:c.5517A>T	XP_011520829.1:p.Gly1839=
XM_011522528.1:c.5493A>T	XP_011520830.1:p.Gly1831=
XM_011522529.1:c.5493A>T	XP_011520831.1:p.Gly1831=
XM_011522530.1:c.5463A>T	XP_011520832.1:p.Gly1821=
XM_011522531.1:c.5445A>T	XP_011520833.1:p.Gly1815=
XM_011522532.1:c.5391A>T	XP_011520834.1:p.Gly1797=
XM_011522533.1:c.5310A>T	XP_011520835.1:p.Gly1770=
XM_011522534.1:c.5253A>T	XP_011520836.1:p.Gly1751=
XM_011522535.1:c.3339A>T	XP_011520837.1:p.Gly1113=
XM_011522536.1:c.5517A>T	XP_011520838.1:p.Gly1839=
XM_011522537.1:c.2517A>T	XP_011520839.1:p.Gly839=
XR_932867.1:n.5532A>T
XR_932868.1:n.5532A>T
XR_932869.1:n.5532A>T
XR_932870.1:n.5532A>T
XM_005255370.3:c.2394A>T	XP_005255427.1:p.Gly798=
XM_011522528.3:c.5493A>T	XP_011520830.1:p.Gly1831=
XM_011522529.2:c.5493A>T	XP_011520831.1:p.Gly1831=
XM_011522537.2:c.2517A>T	XP_011520839.1:p.Gly839=
XM_024450298.1:c.5559A>T	XP_024306066.1:p.Gly1853=
XM_024450299.1:c.5487A>T	XP_024306067.1:p.Gly1829=
XM_024450300.1:c.5349A>T	XP_024306068.1:p.Gly1783=
XM_024450301.1:c.3435A>T	XP_024306069.1:p.Gly1145=
NM_000296.4:c.5439A>T	NP_000287.4:p.Gly1813=
NM_001009944.3:c.5439A>T MANE Select	NP_001009944.3:p.Gly1813=