Canonical Allele Identifier: CA394370212

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156563T>A (hg19) ; chr16:g.2106562T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106562T>A , CM000678.2:g.2106562T>A	GRCh38
NC_000016.9:g.2156563T>A , CM000678.1:g.2156563T>A	GRCh37
NC_000016.8:g.2096564T>A	NCBI36
NG_008617.1:g.34337A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7325A>T MANE Select	ENSP00000262304.4:p.Glu2442Val
ENST00000262304.8:c.7325A>T	ENSP00000262304.4:p.Glu2442Val
ENST00000415938.7:n.570A>T
ENST00000423118.5:c.7325A>T	ENSP00000399501.1:p.Glu2442Val
ENST00000483558.5:n.384A>T
ENST00000483731.5:n.1050A>T
ENST00000486339.6:n.1071A>T
ENST00000487932.5:c.2012A>T	ENSP00000457132.1:p.Glu671Val
ENST00000496574.6:n.1328A>T
ENST00000565639.6:n.1033A>T
ENST00000568591.5:c.2486A>T	ENSP00000457162.1:n.2486A>T
ENST00000569983.5:n.681A>T
NM_000296.3:c.7325A>T	NP_000287.3:p.Glu2442Val
NM_001009944.2:c.7325A>T	NP_001009944.2:p.Glu2442Val
XM_005255370.2:c.4280A>T	XP_005255427.1:p.Glu1427Val
XM_011522525.1:c.7403A>T	XP_011520827.1:p.Glu2468Val
XM_011522526.1:c.7403A>T	XP_011520828.1:p.Glu2468Val
XM_011522527.1:c.7403A>T	XP_011520829.1:p.Glu2468Val
XM_011522528.1:c.7379A>T	XP_011520830.1:p.Glu2460Val
XM_011522529.1:c.7379A>T	XP_011520831.1:p.Glu2460Val
XM_011522530.1:c.7349A>T	XP_011520832.1:p.Glu2450Val
XM_011522531.1:c.7331A>T	XP_011520833.1:p.Glu2444Val
XM_011522532.1:c.7277A>T	XP_011520834.1:p.Glu2426Val
XM_011522533.1:c.7196A>T	XP_011520835.1:p.Glu2399Val
XM_011522534.1:c.7139A>T	XP_011520836.1:p.Glu2380Val
XM_011522535.1:c.5225A>T	XP_011520837.1:p.Glu1742Val
XM_011522536.1:c.7403A>T	XP_011520838.1:p.Glu2468Val
XM_011522537.1:c.4403A>T	XP_011520839.1:p.Glu1468Val
XR_932867.1:n.7418A>T
XR_932868.1:n.7418A>T
XR_932869.1:n.7418A>T
XR_932870.1:n.7418A>T
XM_005255370.3:c.4280A>T	XP_005255427.1:p.Glu1427Val
XM_011522528.3:c.7379A>T	XP_011520830.1:p.Glu2460Val
XM_011522529.2:c.7379A>T	XP_011520831.1:p.Glu2460Val
XM_011522537.2:c.4403A>T	XP_011520839.1:p.Glu1468Val
XM_024450298.1:c.7445A>T	XP_024306066.1:p.Glu2482Val
XM_024450299.1:c.7373A>T	XP_024306067.1:p.Glu2458Val
XM_024450300.1:c.7235A>T	XP_024306068.1:p.Glu2412Val
XM_024450301.1:c.5321A>T	XP_024306069.1:p.Glu1774Val
NM_000296.4:c.7325A>T	NP_000287.4:p.Glu2442Val
NM_001009944.3:c.7325A>T MANE Select	NP_001009944.3:p.Glu2442Val