Canonical Allele Identifier: CA493046732

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106537-C-T
• MyVariant Identifiers: chr16:g.2156538C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106537C>T , CM000678.2:g.2106537C>T	GRCh38
NC_000016.9:g.2156538C>T , CM000678.1:g.2156538C>T	GRCh37
NC_000016.8:g.2096539C>T	NCBI36
NG_008617.1:g.34362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7350G>A MANE Select	ENSP00000262304.4:p.Val2450=
ENST00000262304.8:c.7350G>A	ENSP00000262304.4:p.Val2450=
ENST00000415938.7:n.595G>A
ENST00000423118.5:c.7350G>A	ENSP00000399501.1:p.Val2450=
ENST00000483558.5:n.409G>A
ENST00000483731.5:n.1075G>A
ENST00000486339.6:n.1096G>A
ENST00000487932.5:c.2037G>A	ENSP00000457132.1:p.Val679=
ENST00000496574.6:n.1353G>A
ENST00000565639.6:n.1058G>A
ENST00000568591.5:c.2511G>A	ENSP00000457162.1:n.2511G>A
ENST00000569983.5:n.706G>A
NM_000296.3:c.7350G>A	NP_000287.3:p.Val2450=
NM_001009944.2:c.7350G>A	NP_001009944.2:p.Val2450=
XM_005255370.2:c.4305G>A	XP_005255427.1:p.Val1435=
XM_011522525.1:c.7428G>A	XP_011520827.1:p.Val2476=
XM_011522526.1:c.7428G>A	XP_011520828.1:p.Val2476=
XM_011522527.1:c.7428G>A	XP_011520829.1:p.Val2476=
XM_011522528.1:c.7404G>A	XP_011520830.1:p.Val2468=
XM_011522529.1:c.7404G>A	XP_011520831.1:p.Val2468=
XM_011522530.1:c.7374G>A	XP_011520832.1:p.Val2458=
XM_011522531.1:c.7356G>A	XP_011520833.1:p.Val2452=
XM_011522532.1:c.7302G>A	XP_011520834.1:p.Val2434=
XM_011522533.1:c.7221G>A	XP_011520835.1:p.Val2407=
XM_011522534.1:c.7164G>A	XP_011520836.1:p.Val2388=
XM_011522535.1:c.5250G>A	XP_011520837.1:p.Val1750=
XM_011522536.1:c.7428G>A	XP_011520838.1:p.Val2476=
XM_011522537.1:c.4428G>A	XP_011520839.1:p.Val1476=
XR_932867.1:n.7443G>A
XR_932868.1:n.7443G>A
XR_932869.1:n.7443G>A
XR_932870.1:n.7443G>A
XM_005255370.3:c.4305G>A	XP_005255427.1:p.Val1435=
XM_011522528.3:c.7404G>A	XP_011520830.1:p.Val2468=
XM_011522529.2:c.7404G>A	XP_011520831.1:p.Val2468=
XM_011522537.2:c.4428G>A	XP_011520839.1:p.Val1476=
XM_024450298.1:c.7470G>A	XP_024306066.1:p.Val2490=
XM_024450299.1:c.7398G>A	XP_024306067.1:p.Val2466=
XM_024450300.1:c.7260G>A	XP_024306068.1:p.Val2420=
XM_024450301.1:c.5346G>A	XP_024306069.1:p.Val1782=
NM_000296.4:c.7350G>A	NP_000287.4:p.Val2450=
NM_001009944.3:c.7350G>A MANE Select	NP_001009944.3:p.Val2450=