Canonical Allele Identifier: CA394377009

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159718A>T (hg19) ; chr16:g.2109717A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109717A>T , CM000678.2:g.2109717A>T	GRCh38
NC_000016.9:g.2159718A>T , CM000678.1:g.2159718A>T	GRCh37
NC_000016.8:g.2099719A>T	NCBI36
NG_008617.1:g.31182T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5450T>A MANE Select	ENSP00000262304.4:p.Val1817Glu
ENST00000262304.8:c.5450T>A	ENSP00000262304.4:p.Val1817Glu
ENST00000415938.7:n.310+2623T>A
ENST00000423118.5:c.5450T>A	ENSP00000399501.1:p.Val1817Glu
ENST00000468674.5:n.431-367T>A
ENST00000483024.1:c.233+2099T>A
ENST00000483731.5:n.790+2623T>A
ENST00000487932.5:c.137T>A	ENSP00000457132.1:p.Val46Glu
ENST00000488185.2:c.473-1359T>A
ENST00000565639.6:n.773+2623T>A
ENST00000568591.5:c.2226+2623T>A	ENSP00000457162.1:n.2226+2623T>A
ENST00000569983.5:n.421+2623T>A
NM_000296.3:c.5450T>A	NP_000287.3:p.Val1817Glu
NM_001009944.2:c.5450T>A	NP_001009944.2:p.Val1817Glu
XM_005255370.2:c.2405T>A	XP_005255427.1:p.Val802Glu
XM_011522525.1:c.5528T>A	XP_011520827.1:p.Val1843Glu
XM_011522526.1:c.5528T>A	XP_011520828.1:p.Val1843Glu
XM_011522527.1:c.5528T>A	XP_011520829.1:p.Val1843Glu
XM_011522528.1:c.5504T>A	XP_011520830.1:p.Val1835Glu
XM_011522529.1:c.5504T>A	XP_011520831.1:p.Val1835Glu
XM_011522530.1:c.5474T>A	XP_011520832.1:p.Val1825Glu
XM_011522531.1:c.5456T>A	XP_011520833.1:p.Val1819Glu
XM_011522532.1:c.5402T>A	XP_011520834.1:p.Val1801Glu
XM_011522533.1:c.5321T>A	XP_011520835.1:p.Val1774Glu
XM_011522534.1:c.5264T>A	XP_011520836.1:p.Val1755Glu
XM_011522535.1:c.3350T>A	XP_011520837.1:p.Val1117Glu
XM_011522536.1:c.5528T>A	XP_011520838.1:p.Val1843Glu
XM_011522537.1:c.2528T>A	XP_011520839.1:p.Val843Glu
XR_932867.1:n.5543T>A
XR_932868.1:n.5543T>A
XR_932869.1:n.5543T>A
XR_932870.1:n.5543T>A
XM_005255370.3:c.2405T>A	XP_005255427.1:p.Val802Glu
XM_011522528.3:c.5504T>A	XP_011520830.1:p.Val1835Glu
XM_011522529.2:c.5504T>A	XP_011520831.1:p.Val1835Glu
XM_011522537.2:c.2528T>A	XP_011520839.1:p.Val843Glu
XM_024450298.1:c.5570T>A	XP_024306066.1:p.Val1857Glu
XM_024450299.1:c.5498T>A	XP_024306067.1:p.Val1833Glu
XM_024450300.1:c.5360T>A	XP_024306068.1:p.Val1787Glu
XM_024450301.1:c.3446T>A	XP_024306069.1:p.Val1149Glu
NM_000296.4:c.5450T>A	NP_000287.4:p.Val1817Glu
NM_001009944.3:c.5450T>A MANE Select	NP_001009944.3:p.Val1817Glu