Canonical Allele Identifier: CA394370366

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156593A>G (hg19) ; chr16:g.2106592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106592A>G , CM000678.2:g.2106592A>G	GRCh38
NC_000016.9:g.2156593A>G , CM000678.1:g.2156593A>G	GRCh37
NC_000016.8:g.2096594A>G	NCBI36
NG_008617.1:g.34307T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7295T>C MANE Select	ENSP00000262304.4:p.Val2432Ala
ENST00000262304.8:c.7295T>C	ENSP00000262304.4:p.Val2432Ala
ENST00000415938.7:n.540T>C
ENST00000423118.5:c.7295T>C	ENSP00000399501.1:p.Val2432Ala
ENST00000483024.1:c.463T>C
ENST00000483558.5:n.354T>C
ENST00000483731.5:n.1020T>C
ENST00000486339.6:n.1041T>C
ENST00000487932.5:c.1982T>C	ENSP00000457132.1:p.Val661Ala
ENST00000496574.6:n.1298T>C
ENST00000565639.6:n.1003T>C
ENST00000568591.5:c.2456T>C	ENSP00000457162.1:n.2456T>C
ENST00000569983.5:n.651T>C
NM_000296.3:c.7295T>C	NP_000287.3:p.Val2432Ala
NM_001009944.2:c.7295T>C	NP_001009944.2:p.Val2432Ala
XM_005255370.2:c.4250T>C	XP_005255427.1:p.Val1417Ala
XM_011522525.1:c.7373T>C	XP_011520827.1:p.Val2458Ala
XM_011522526.1:c.7373T>C	XP_011520828.1:p.Val2458Ala
XM_011522527.1:c.7373T>C	XP_011520829.1:p.Val2458Ala
XM_011522528.1:c.7349T>C	XP_011520830.1:p.Val2450Ala
XM_011522529.1:c.7349T>C	XP_011520831.1:p.Val2450Ala
XM_011522530.1:c.7319T>C	XP_011520832.1:p.Val2440Ala
XM_011522531.1:c.7301T>C	XP_011520833.1:p.Val2434Ala
XM_011522532.1:c.7247T>C	XP_011520834.1:p.Val2416Ala
XM_011522533.1:c.7166T>C	XP_011520835.1:p.Val2389Ala
XM_011522534.1:c.7109T>C	XP_011520836.1:p.Val2370Ala
XM_011522535.1:c.5195T>C	XP_011520837.1:p.Val1732Ala
XM_011522536.1:c.7373T>C	XP_011520838.1:p.Val2458Ala
XM_011522537.1:c.4373T>C	XP_011520839.1:p.Val1458Ala
XR_932867.1:n.7388T>C
XR_932868.1:n.7388T>C
XR_932869.1:n.7388T>C
XR_932870.1:n.7388T>C
XM_005255370.3:c.4250T>C	XP_005255427.1:p.Val1417Ala
XM_011522528.3:c.7349T>C	XP_011520830.1:p.Val2450Ala
XM_011522529.2:c.7349T>C	XP_011520831.1:p.Val2450Ala
XM_011522537.2:c.4373T>C	XP_011520839.1:p.Val1458Ala
XM_024450298.1:c.7415T>C	XP_024306066.1:p.Val2472Ala
XM_024450299.1:c.7343T>C	XP_024306067.1:p.Val2448Ala
XM_024450300.1:c.7205T>C	XP_024306068.1:p.Val2402Ala
XM_024450301.1:c.5291T>C	XP_024306069.1:p.Val1764Ala
NM_000296.4:c.7295T>C	NP_000287.4:p.Val2432Ala
NM_001009944.3:c.7295T>C MANE Select	NP_001009944.3:p.Val2432Ala