Canonical Allele Identifier: CA276783180

Gene: PKD1

Linked Data

• dbSNP Id: rs193261091
• gnomAD v2: 16-2166413-G-A
• gnomAD v3: 16-2116412-G-A
• gnomAD v4: 16-2116412-G-A
• MyVariant Identifiers: chr16:g.2166413G>A (hg19) ; chr16:g.2116412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2116412G>A , CM000678.2:g.2116412G>A	GRCh38
NC_000016.9:g.2166413G>A , CM000678.1:g.2166413G>A	GRCh37
NC_000016.8:g.2106414G>A	NCBI36
NG_008617.1:g.24487C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.1722+117C>T MANE Select	ENSP00000262304.4:n.1722+117C>T
ENST00000262304.8:c.1722+117C>T	ENSP00000262304.4:n.1722+117C>T
ENST00000423118.5:c.1722+117C>T	ENSP00000399501.1:n.1722+117C>T
ENST00000488185.2:c.472+1077C>T
ENST00000568591.5:c.653+117C>T	ENSP00000457162.1:n.653+117C>T
NM_000296.3:c.1722+117C>T	NP_000287.3:n.1722+117C>T
NM_001009944.2:c.1722+117C>T	NP_001009944.2:n.1722+117C>T
XM_011522525.1:c.1776+117C>T	XP_011520827.1:n.1776+117C>T
XM_011522526.1:c.1776+117C>T	XP_011520828.1:n.1776+117C>T
XM_011522527.1:c.1776+117C>T	XP_011520829.1:n.1776+117C>T
XM_011522528.1:c.1776+117C>T	XP_011520830.1:n.1776+117C>T
XM_011522529.1:c.1776+117C>T	XP_011520831.1:n.1776+117C>T
XM_011522530.1:c.1722+117C>T	XP_011520832.1:n.1722+117C>T
XM_011522531.1:c.1704+117C>T	XP_011520833.1:n.1704+117C>T
XM_011522532.1:c.1650+117C>T	XP_011520834.1:n.1650+117C>T
XM_011522533.1:c.1569+117C>T	XP_011520835.1:n.1569+117C>T
XM_011522534.1:c.1512+117C>T	XP_011520836.1:n.1512+117C>T
XM_011522536.1:c.1776+117C>T	XP_011520838.1:n.1776+117C>T
XR_932867.1:n.1791+117C>T
XR_932868.1:n.1791+117C>T
XR_932869.1:n.1791+117C>T
XR_932870.1:n.1791+117C>T
XM_011522528.3:c.1776+117C>T	XP_011520830.1:n.1776+117C>T
XM_011522529.2:c.1776+117C>T	XP_011520831.1:n.1776+117C>T
XM_024450298.1:c.1722+117C>T	XP_024306066.1:n.1722+117C>T
XM_024450299.1:c.1650+117C>T	XP_024306067.1:n.1650+117C>T
XM_024450300.1:c.1512+117C>T	XP_024306068.1:n.1512+117C>T
NM_000296.4:c.1722+117C>T	NP_000287.4:n.1722+117C>T
NM_001009944.3:c.1722+117C>T MANE Select	NP_001009944.3:n.1722+117C>T