Canonical Allele Identifier: CA394370051

Gene: PKD1

Linked Data

• dbSNP Id: rs1314345575
• gnomAD v2: 16-2156534-C-T
• gnomAD v4: 16-2106533-C-T
• MyVariant Identifiers: chr16:g.2156534C>T (hg19) ; chr16:g.2106533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106533C>T , CM000678.2:g.2106533C>T	GRCh38
NC_000016.9:g.2156534C>T , CM000678.1:g.2156534C>T	GRCh37
NC_000016.8:g.2096535C>T	NCBI36
NG_008617.1:g.34366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7354G>A MANE Select	ENSP00000262304.4:p.Gly2452Ser
ENST00000262304.8:c.7354G>A	ENSP00000262304.4:p.Gly2452Ser
ENST00000415938.7:n.599G>A
ENST00000423118.5:c.7354G>A	ENSP00000399501.1:p.Gly2452Ser
ENST00000483558.5:n.413G>A
ENST00000483731.5:n.1079G>A
ENST00000486339.6:n.1100G>A
ENST00000487932.5:c.2041G>A	ENSP00000457132.1:p.Gly681Ser
ENST00000496574.6:n.1357G>A
ENST00000565639.6:n.1062G>A
ENST00000568591.5:c.2515G>A	ENSP00000457162.1:n.2515G>A
ENST00000569983.5:n.710G>A
NM_000296.3:c.7354G>A	NP_000287.3:p.Gly2452Ser
NM_001009944.2:c.7354G>A	NP_001009944.2:p.Gly2452Ser
XM_005255370.2:c.4309G>A	XP_005255427.1:p.Gly1437Ser
XM_011522525.1:c.7432G>A	XP_011520827.1:p.Gly2478Ser
XM_011522526.1:c.7432G>A	XP_011520828.1:p.Gly2478Ser
XM_011522527.1:c.7432G>A	XP_011520829.1:p.Gly2478Ser
XM_011522528.1:c.7408G>A	XP_011520830.1:p.Gly2470Ser
XM_011522529.1:c.7408G>A	XP_011520831.1:p.Gly2470Ser
XM_011522530.1:c.7378G>A	XP_011520832.1:p.Gly2460Ser
XM_011522531.1:c.7360G>A	XP_011520833.1:p.Gly2454Ser
XM_011522532.1:c.7306G>A	XP_011520834.1:p.Gly2436Ser
XM_011522533.1:c.7225G>A	XP_011520835.1:p.Gly2409Ser
XM_011522534.1:c.7168G>A	XP_011520836.1:p.Gly2390Ser
XM_011522535.1:c.5254G>A	XP_011520837.1:p.Gly1752Ser
XM_011522536.1:c.7432G>A	XP_011520838.1:p.Gly2478Ser
XM_011522537.1:c.4432G>A	XP_011520839.1:p.Gly1478Ser
XR_932867.1:n.7447G>A
XR_932868.1:n.7447G>A
XR_932869.1:n.7447G>A
XR_932870.1:n.7447G>A
XM_005255370.3:c.4309G>A	XP_005255427.1:p.Gly1437Ser
XM_011522528.3:c.7408G>A	XP_011520830.1:p.Gly2470Ser
XM_011522529.2:c.7408G>A	XP_011520831.1:p.Gly2470Ser
XM_011522537.2:c.4432G>A	XP_011520839.1:p.Gly1478Ser
XM_024450298.1:c.7474G>A	XP_024306066.1:p.Gly2492Ser
XM_024450299.1:c.7402G>A	XP_024306067.1:p.Gly2468Ser
XM_024450300.1:c.7264G>A	XP_024306068.1:p.Gly2422Ser
XM_024450301.1:c.5350G>A	XP_024306069.1:p.Gly1784Ser
NM_000296.4:c.7354G>A	NP_000287.4:p.Gly2452Ser
NM_001009944.3:c.7354G>A MANE Select	NP_001009944.3:p.Gly2452Ser