Canonical Allele Identifier: CA7833295

Gene: PKD1

Linked Data

• dbSNP Id: rs768088779
• ExAC: 16:2165403 G / A
• gnomAD v2: 16-2165403-G-A
• gnomAD v3: 16-2115402-G-A
• gnomAD v4: 16-2115402-G-A
• MyVariant Identifiers: chr16:g.2165403G>A (hg19) ; chr16:g.2115402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2115402G>A , CM000678.2:g.2115402G>A	GRCh38
NC_000016.9:g.2165403G>A , CM000678.1:g.2165403G>A	GRCh37
NC_000016.8:g.2105404G>A	NCBI36
NG_008617.1:g.25497C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.2073C>T MANE Select	ENSP00000262304.4:p.Pro691=
ENST00000262304.8:c.2073C>T	ENSP00000262304.4:p.Pro691=
ENST00000423118.5:c.2073C>T	ENSP00000399501.1:p.Pro691=
ENST00000488185.2:c.472+2087C>T
ENST00000568591.5:c.1004C>T	ENSP00000457162.1:n.1004C>T
NM_000296.3:c.2073C>T	NP_000287.3:p.Pro691=
NM_001009944.2:c.2073C>T	NP_001009944.2:p.Pro691=
XM_011522525.1:c.2127C>T	XP_011520827.1:p.Pro709=
XM_011522526.1:c.2127C>T	XP_011520828.1:p.Pro709=
XM_011522527.1:c.2127C>T	XP_011520829.1:p.Pro709=
XM_011522528.1:c.2127C>T	XP_011520830.1:p.Pro709=
XM_011522529.1:c.2127C>T	XP_011520831.1:p.Pro709=
XM_011522530.1:c.2073C>T	XP_011520832.1:p.Pro691=
XM_011522531.1:c.2055C>T	XP_011520833.1:p.Pro685=
XM_011522532.1:c.2001C>T	XP_011520834.1:p.Pro667=
XM_011522533.1:c.1920C>T	XP_011520835.1:p.Pro640=
XM_011522534.1:c.1863C>T	XP_011520836.1:p.Pro621=
XM_011522536.1:c.2127C>T	XP_011520838.1:p.Pro709=
XR_932867.1:n.2142C>T
XR_932868.1:n.2142C>T
XR_932869.1:n.2142C>T
XR_932870.1:n.2142C>T
XM_011522528.3:c.2127C>T	XP_011520830.1:p.Pro709=
XM_011522529.2:c.2127C>T	XP_011520831.1:p.Pro709=
XM_024450298.1:c.2073C>T	XP_024306066.1:p.Pro691=
XM_024450299.1:c.2001C>T	XP_024306067.1:p.Pro667=
XM_024450300.1:c.1863C>T	XP_024306068.1:p.Pro621=
NM_000296.4:c.2073C>T	NP_000287.4:p.Pro691=
NM_001009944.3:c.2073C>T MANE Select	NP_001009944.3:p.Pro691=