Canonical Allele Identifier: CA394370258

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156570C>A (hg19) ; chr16:g.2106569C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106569C>A , CM000678.2:g.2106569C>A	GRCh38
NC_000016.9:g.2156570C>A , CM000678.1:g.2156570C>A	GRCh37
NC_000016.8:g.2096571C>A	NCBI36
NG_008617.1:g.34330G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7318G>T MANE Select	ENSP00000262304.4:p.Asp2440Tyr
ENST00000262304.8:c.7318G>T	ENSP00000262304.4:p.Asp2440Tyr
ENST00000415938.7:n.563G>T
ENST00000423118.5:c.7318G>T	ENSP00000399501.1:p.Asp2440Tyr
ENST00000483558.5:n.377G>T
ENST00000483731.5:n.1043G>T
ENST00000486339.6:n.1064G>T
ENST00000487932.5:c.2005G>T	ENSP00000457132.1:p.Asp669Tyr
ENST00000496574.6:n.1321G>T
ENST00000565639.6:n.1026G>T
ENST00000568591.5:c.2479G>T	ENSP00000457162.1:n.2479G>T
ENST00000569983.5:n.674G>T
NM_000296.3:c.7318G>T	NP_000287.3:p.Asp2440Tyr
NM_001009944.2:c.7318G>T	NP_001009944.2:p.Asp2440Tyr
XM_005255370.2:c.4273G>T	XP_005255427.1:p.Asp1425Tyr
XM_011522525.1:c.7396G>T	XP_011520827.1:p.Asp2466Tyr
XM_011522526.1:c.7396G>T	XP_011520828.1:p.Asp2466Tyr
XM_011522527.1:c.7396G>T	XP_011520829.1:p.Asp2466Tyr
XM_011522528.1:c.7372G>T	XP_011520830.1:p.Asp2458Tyr
XM_011522529.1:c.7372G>T	XP_011520831.1:p.Asp2458Tyr
XM_011522530.1:c.7342G>T	XP_011520832.1:p.Asp2448Tyr
XM_011522531.1:c.7324G>T	XP_011520833.1:p.Asp2442Tyr
XM_011522532.1:c.7270G>T	XP_011520834.1:p.Asp2424Tyr
XM_011522533.1:c.7189G>T	XP_011520835.1:p.Asp2397Tyr
XM_011522534.1:c.7132G>T	XP_011520836.1:p.Asp2378Tyr
XM_011522535.1:c.5218G>T	XP_011520837.1:p.Asp1740Tyr
XM_011522536.1:c.7396G>T	XP_011520838.1:p.Asp2466Tyr
XM_011522537.1:c.4396G>T	XP_011520839.1:p.Asp1466Tyr
XR_932867.1:n.7411G>T
XR_932868.1:n.7411G>T
XR_932869.1:n.7411G>T
XR_932870.1:n.7411G>T
XM_005255370.3:c.4273G>T	XP_005255427.1:p.Asp1425Tyr
XM_011522528.3:c.7372G>T	XP_011520830.1:p.Asp2458Tyr
XM_011522529.2:c.7372G>T	XP_011520831.1:p.Asp2458Tyr
XM_011522537.2:c.4396G>T	XP_011520839.1:p.Asp1466Tyr
XM_024450298.1:c.7438G>T	XP_024306066.1:p.Asp2480Tyr
XM_024450299.1:c.7366G>T	XP_024306067.1:p.Asp2456Tyr
XM_024450300.1:c.7228G>T	XP_024306068.1:p.Asp2410Tyr
XM_024450301.1:c.5314G>T	XP_024306069.1:p.Asp1772Tyr
NM_000296.4:c.7318G>T	NP_000287.4:p.Asp2440Tyr
NM_001009944.3:c.7318G>T MANE Select	NP_001009944.3:p.Asp2440Tyr