Canonical Allele Identifier: CA493049547

Gene: PKD1

Linked Data

• dbSNP Id: rs1192107652
• gnomAD v2: 16-2165412-G-A
• gnomAD v3: 16-2115411-G-A
• gnomAD v4: 16-2115411-G-A
• MyVariant Identifiers: chr16:g.2165412G>A (hg19) ; chr16:g.2115411G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2115411G>A , CM000678.2:g.2115411G>A	GRCh38
NC_000016.9:g.2165412G>A , CM000678.1:g.2165412G>A	GRCh37
NC_000016.8:g.2105413G>A	NCBI36
NG_008617.1:g.25488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2064C>T MANE Select	ENSP00000262304.4:p.Phe688=
ENST00000262304.8:c.2064C>T	ENSP00000262304.4:p.Phe688=
ENST00000423118.5:c.2064C>T	ENSP00000399501.1:p.Phe688=
ENST00000488185.2:c.472+2078C>T
ENST00000568591.5:c.995C>T	ENSP00000457162.1:n.995C>T
NM_000296.3:c.2064C>T	NP_000287.3:p.Phe688=
NM_001009944.2:c.2064C>T	NP_001009944.2:p.Phe688=
XM_011522525.1:c.2118C>T	XP_011520827.1:p.Phe706=
XM_011522526.1:c.2118C>T	XP_011520828.1:p.Phe706=
XM_011522527.1:c.2118C>T	XP_011520829.1:p.Phe706=
XM_011522528.1:c.2118C>T	XP_011520830.1:p.Phe706=
XM_011522529.1:c.2118C>T	XP_011520831.1:p.Phe706=
XM_011522530.1:c.2064C>T	XP_011520832.1:p.Phe688=
XM_011522531.1:c.2046C>T	XP_011520833.1:p.Phe682=
XM_011522532.1:c.1992C>T	XP_011520834.1:p.Phe664=
XM_011522533.1:c.1911C>T	XP_011520835.1:p.Phe637=
XM_011522534.1:c.1854C>T	XP_011520836.1:p.Phe618=
XM_011522536.1:c.2118C>T	XP_011520838.1:p.Phe706=
XR_932867.1:n.2133C>T
XR_932868.1:n.2133C>T
XR_932869.1:n.2133C>T
XR_932870.1:n.2133C>T
XM_011522528.3:c.2118C>T	XP_011520830.1:p.Phe706=
XM_011522529.2:c.2118C>T	XP_011520831.1:p.Phe706=
XM_024450298.1:c.2064C>T	XP_024306066.1:p.Phe688=
XM_024450299.1:c.1992C>T	XP_024306067.1:p.Phe664=
XM_024450300.1:c.1854C>T	XP_024306068.1:p.Phe618=
NM_000296.4:c.2064C>T	NP_000287.4:p.Phe688=
NM_001009944.3:c.2064C>T MANE Select	NP_001009944.3:p.Phe688=