Canonical Allele Identifier: CA7828714

Gene: PKD1

Linked Data

• ClinVar Variation Id: 2630673
• ClinVar RCV Id: RCV003402469
• dbSNP Id: rs779478596
• ExAC: 16:2140500 G / A
• gnomAD v2: 16-2140500-G-A
• gnomAD v4: 16-2090499-G-A
• MyVariant Identifiers: chr16:g.2140500G>A (hg19) ; chr16:g.2090499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090499G>A , CM000678.2:g.2090499G>A	GRCh38
NC_000016.9:g.2140500G>A , CM000678.1:g.2140500G>A	GRCh37
NC_000016.8:g.2080501G>A	NCBI36
NG_005895.1:g.46194G>A , LRG_487:g.46194G>A
NG_008617.1:g.52722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12230C>T MANE Select	ENSP00000262304.4:p.Ala4077Val
ENST00000262304.8:c.12230C>T	ENSP00000262304.4:p.Ala4077Val
ENST00000423118.5:c.12227C>T	ENSP00000399501.1:p.Ala4076Val
ENST00000472577.1:n.258C>T
NM_000296.3:c.12227C>T	NP_000287.3:p.Ala4076Val
NM_001009944.2:c.12230C>T	NP_001009944.2:p.Ala4077Val
XM_005255370.2:c.9185C>T	XP_005255427.1:p.Ala3062Val
XM_011522525.1:c.12308C>T	XP_011520827.1:p.Ala4103Val
XM_011522526.1:c.12305C>T	XP_011520828.1:p.Ala4102Val
XM_011522527.1:c.12290C>T	XP_011520829.1:p.Ala4097Val
XM_011522528.1:c.12284C>T	XP_011520830.1:p.Ala4095Val
XM_011522529.1:c.12281C>T	XP_011520831.1:p.Ala4094Val
XM_011522530.1:c.12254C>T	XP_011520832.1:p.Ala4085Val
XM_011522531.1:c.12236C>T	XP_011520833.1:p.Ala4079Val
XM_011522532.1:c.12182C>T	XP_011520834.1:p.Ala4061Val
XM_011522533.1:c.12101C>T	XP_011520835.1:p.Ala4034Val
XM_011522534.1:c.12044C>T	XP_011520836.1:p.Ala4015Val
XM_011522535.1:c.10130C>T	XP_011520837.1:p.Ala3377Val
XM_011522537.1:c.9308C>T	XP_011520839.1:p.Ala3103Val
XR_932867.1:n.12148C>T
XM_005255370.3:c.9185C>T	XP_005255427.1:p.Ala3062Val
XM_011522528.3:c.12284C>T	XP_011520830.1:p.Ala4095Val
XM_011522529.2:c.12281C>T	XP_011520831.1:p.Ala4094Val
XM_011522537.2:c.9308C>T	XP_011520839.1:p.Ala3103Val
XM_024450298.1:c.12350C>T	XP_024306066.1:p.Ala4117Val
XM_024450299.1:c.12278C>T	XP_024306067.1:p.Ala4093Val
XM_024450300.1:c.12140C>T	XP_024306068.1:p.Ala4047Val
XM_024450301.1:c.10226C>T	XP_024306069.1:p.Ala3409Val
NM_000296.4:c.12227C>T	NP_000287.4:p.Ala4076Val
NM_001009944.3:c.12230C>T MANE Select	NP_001009944.3:p.Ala4077Val