Canonical Allele Identifier: CA394371138

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156641A>T (hg19) ; chr16:g.2106640A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106640A>T , CM000678.2:g.2106640A>T	GRCh38
NC_000016.9:g.2156641A>T , CM000678.1:g.2156641A>T	GRCh37
NC_000016.8:g.2096642A>T	NCBI36
NG_008617.1:g.34259T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7247T>A MANE Select	ENSP00000262304.4:p.Val2416Glu
ENST00000262304.8:c.7247T>A	ENSP00000262304.4:p.Val2416Glu
ENST00000415938.7:n.492T>A
ENST00000423118.5:c.7247T>A	ENSP00000399501.1:p.Val2416Glu
ENST00000483024.1:c.415T>A
ENST00000483558.5:n.306T>A
ENST00000483731.5:n.972T>A
ENST00000486339.6:n.993T>A
ENST00000487932.5:c.1934T>A	ENSP00000457132.1:p.Val645Glu
ENST00000496574.6:n.1250T>A
ENST00000565639.6:n.955T>A
ENST00000568591.5:c.2408T>A	ENSP00000457162.1:n.2408T>A
ENST00000569983.5:n.603T>A
NM_000296.3:c.7247T>A	NP_000287.3:p.Val2416Glu
NM_001009944.2:c.7247T>A	NP_001009944.2:p.Val2416Glu
XM_005255370.2:c.4202T>A	XP_005255427.1:p.Val1401Glu
XM_011522525.1:c.7325T>A	XP_011520827.1:p.Val2442Glu
XM_011522526.1:c.7325T>A	XP_011520828.1:p.Val2442Glu
XM_011522527.1:c.7325T>A	XP_011520829.1:p.Val2442Glu
XM_011522528.1:c.7301T>A	XP_011520830.1:p.Val2434Glu
XM_011522529.1:c.7301T>A	XP_011520831.1:p.Val2434Glu
XM_011522530.1:c.7271T>A	XP_011520832.1:p.Val2424Glu
XM_011522531.1:c.7253T>A	XP_011520833.1:p.Val2418Glu
XM_011522532.1:c.7199T>A	XP_011520834.1:p.Val2400Glu
XM_011522533.1:c.7118T>A	XP_011520835.1:p.Val2373Glu
XM_011522534.1:c.7061T>A	XP_011520836.1:p.Val2354Glu
XM_011522535.1:c.5147T>A	XP_011520837.1:p.Val1716Glu
XM_011522536.1:c.7325T>A	XP_011520838.1:p.Val2442Glu
XM_011522537.1:c.4325T>A	XP_011520839.1:p.Val1442Glu
XR_932867.1:n.7340T>A
XR_932868.1:n.7340T>A
XR_932869.1:n.7340T>A
XR_932870.1:n.7340T>A
XM_005255370.3:c.4202T>A	XP_005255427.1:p.Val1401Glu
XM_011522528.3:c.7301T>A	XP_011520830.1:p.Val2434Glu
XM_011522529.2:c.7301T>A	XP_011520831.1:p.Val2434Glu
XM_011522537.2:c.4325T>A	XP_011520839.1:p.Val1442Glu
XM_024450298.1:c.7367T>A	XP_024306066.1:p.Val2456Glu
XM_024450299.1:c.7295T>A	XP_024306067.1:p.Val2432Glu
XM_024450300.1:c.7157T>A	XP_024306068.1:p.Val2386Glu
XM_024450301.1:c.5243T>A	XP_024306069.1:p.Val1748Glu
NM_000296.4:c.7247T>A	NP_000287.4:p.Val2416Glu
NM_001009944.3:c.7247T>A MANE Select	NP_001009944.3:p.Val2416Glu