Canonical Allele Identifier: CA493047948

Gene: PKD1

Linked Data

• gnomAD v4: 16-2109632-G-A
• MyVariant Identifiers: chr16:g.2159633G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109632G>A , CM000678.2:g.2109632G>A	GRCh38
NC_000016.9:g.2159633G>A , CM000678.1:g.2159633G>A	GRCh37
NC_000016.8:g.2099634G>A	NCBI36
NG_008617.1:g.31267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5535C>T MANE Select	ENSP00000262304.4:p.Ser1845=
ENST00000262304.8:c.5535C>T	ENSP00000262304.4:p.Ser1845=
ENST00000415938.7:n.311-2684C>T
ENST00000423118.5:c.5535C>T	ENSP00000399501.1:p.Ser1845=
ENST00000468674.5:n.431-282C>T
ENST00000483024.1:c.233+2184C>T
ENST00000483731.5:n.791-2684C>T
ENST00000487932.5:c.222C>T	ENSP00000457132.1:p.Ser74=
ENST00000488185.2:c.473-1274C>T
ENST00000565639.6:n.774-2684C>T
ENST00000568591.5:c.2227-2684C>T	ENSP00000457162.1:n.2227-2684C>T
ENST00000569983.5:n.422-2684C>T
NM_000296.3:c.5535C>T	NP_000287.3:p.Ser1845=
NM_001009944.2:c.5535C>T	NP_001009944.2:p.Ser1845=
XM_005255370.2:c.2490C>T	XP_005255427.1:p.Ser830=
XM_011522525.1:c.5613C>T	XP_011520827.1:p.Ser1871=
XM_011522526.1:c.5613C>T	XP_011520828.1:p.Ser1871=
XM_011522527.1:c.5613C>T	XP_011520829.1:p.Ser1871=
XM_011522528.1:c.5589C>T	XP_011520830.1:p.Ser1863=
XM_011522529.1:c.5589C>T	XP_011520831.1:p.Ser1863=
XM_011522530.1:c.5559C>T	XP_011520832.1:p.Ser1853=
XM_011522531.1:c.5541C>T	XP_011520833.1:p.Ser1847=
XM_011522532.1:c.5487C>T	XP_011520834.1:p.Ser1829=
XM_011522533.1:c.5406C>T	XP_011520835.1:p.Ser1802=
XM_011522534.1:c.5349C>T	XP_011520836.1:p.Ser1783=
XM_011522535.1:c.3435C>T	XP_011520837.1:p.Ser1145=
XM_011522536.1:c.5613C>T	XP_011520838.1:p.Ser1871=
XM_011522537.1:c.2613C>T	XP_011520839.1:p.Ser871=
XR_932867.1:n.5628C>T
XR_932868.1:n.5628C>T
XR_932869.1:n.5628C>T
XR_932870.1:n.5628C>T
XM_005255370.3:c.2490C>T	XP_005255427.1:p.Ser830=
XM_011522528.3:c.5589C>T	XP_011520830.1:p.Ser1863=
XM_011522529.2:c.5589C>T	XP_011520831.1:p.Ser1863=
XM_011522537.2:c.2613C>T	XP_011520839.1:p.Ser871=
XM_024450298.1:c.5655C>T	XP_024306066.1:p.Ser1885=
XM_024450299.1:c.5583C>T	XP_024306067.1:p.Ser1861=
XM_024450300.1:c.5445C>T	XP_024306068.1:p.Ser1815=
XM_024450301.1:c.3531C>T	XP_024306069.1:p.Ser1177=
NM_000296.4:c.5535C>T	NP_000287.4:p.Ser1845=
NM_001009944.3:c.5535C>T MANE Select	NP_001009944.3:p.Ser1845=