Canonical Allele Identifier: CA394370372

Gene: PKD1

Linked Data

• dbSNP Id: rs1489108927
• gnomAD v2: 16-2156594-C-T
• gnomAD v4: 16-2106593-C-T
• MyVariant Identifiers: chr16:g.2156594C>T (hg19) ; chr16:g.2106593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106593C>T , CM000678.2:g.2106593C>T	GRCh38
NC_000016.9:g.2156594C>T , CM000678.1:g.2156594C>T	GRCh37
NC_000016.8:g.2096595C>T	NCBI36
NG_008617.1:g.34306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7294G>A MANE Select	ENSP00000262304.4:p.Val2432Met
ENST00000262304.8:c.7294G>A	ENSP00000262304.4:p.Val2432Met
ENST00000415938.7:n.539G>A
ENST00000423118.5:c.7294G>A	ENSP00000399501.1:p.Val2432Met
ENST00000483024.1:c.462G>A
ENST00000483558.5:n.353G>A
ENST00000483731.5:n.1019G>A
ENST00000486339.6:n.1040G>A
ENST00000487932.5:c.1981G>A	ENSP00000457132.1:p.Val661Met
ENST00000496574.6:n.1297G>A
ENST00000565639.6:n.1002G>A
ENST00000568591.5:c.2455G>A	ENSP00000457162.1:n.2455G>A
ENST00000569983.5:n.650G>A
NM_000296.3:c.7294G>A	NP_000287.3:p.Val2432Met
NM_001009944.2:c.7294G>A	NP_001009944.2:p.Val2432Met
XM_005255370.2:c.4249G>A	XP_005255427.1:p.Val1417Met
XM_011522525.1:c.7372G>A	XP_011520827.1:p.Val2458Met
XM_011522526.1:c.7372G>A	XP_011520828.1:p.Val2458Met
XM_011522527.1:c.7372G>A	XP_011520829.1:p.Val2458Met
XM_011522528.1:c.7348G>A	XP_011520830.1:p.Val2450Met
XM_011522529.1:c.7348G>A	XP_011520831.1:p.Val2450Met
XM_011522530.1:c.7318G>A	XP_011520832.1:p.Val2440Met
XM_011522531.1:c.7300G>A	XP_011520833.1:p.Val2434Met
XM_011522532.1:c.7246G>A	XP_011520834.1:p.Val2416Met
XM_011522533.1:c.7165G>A	XP_011520835.1:p.Val2389Met
XM_011522534.1:c.7108G>A	XP_011520836.1:p.Val2370Met
XM_011522535.1:c.5194G>A	XP_011520837.1:p.Val1732Met
XM_011522536.1:c.7372G>A	XP_011520838.1:p.Val2458Met
XM_011522537.1:c.4372G>A	XP_011520839.1:p.Val1458Met
XR_932867.1:n.7387G>A
XR_932868.1:n.7387G>A
XR_932869.1:n.7387G>A
XR_932870.1:n.7387G>A
XM_005255370.3:c.4249G>A	XP_005255427.1:p.Val1417Met
XM_011522528.3:c.7348G>A	XP_011520830.1:p.Val2450Met
XM_011522529.2:c.7348G>A	XP_011520831.1:p.Val2450Met
XM_011522537.2:c.4372G>A	XP_011520839.1:p.Val1458Met
XM_024450298.1:c.7414G>A	XP_024306066.1:p.Val2472Met
XM_024450299.1:c.7342G>A	XP_024306067.1:p.Val2448Met
XM_024450300.1:c.7204G>A	XP_024306068.1:p.Val2402Met
XM_024450301.1:c.5290G>A	XP_024306069.1:p.Val1764Met
NM_000296.4:c.7294G>A	NP_000287.4:p.Val2432Met
NM_001009944.3:c.7294G>A MANE Select	NP_001009944.3:p.Val2432Met