Canonical Allele Identifier: CA7828737

Gene: PKD1

Linked Data

• ClinVar Variation Id: 256915
• ClinVar RCV Id: RCV000252887 ; RCV000576719 ; RCV001254190 ; RCV001291882 ; RCV001706307
• dbSNP Id: rs3209986
• ExAC: 16:2140554 G / A
• gnomAD v2: 16-2140554-G-A
• gnomAD v3: 16-2090553-G-A
• gnomAD v4: 16-2090553-G-A
• MyVariant Identifiers: chr16:g.2140554G>A (hg19) ; chr16:g.2090553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090553G>A , CM000678.2:g.2090553G>A	GRCh38
NC_000016.9:g.2140554G>A , CM000678.1:g.2140554G>A	GRCh37
NC_000016.8:g.2080555G>A	NCBI36
NG_005895.1:g.46248G>A , LRG_487:g.46248G>A
NG_008617.1:g.52668C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12176C>T MANE Select	ENSP00000262304.4:p.Ala4059Val
ENST00000262304.8:c.12176C>T	ENSP00000262304.4:p.Ala4059Val
ENST00000423118.5:c.12173C>T	ENSP00000399501.1:p.Ala4058Val
ENST00000472577.1:n.204C>T
NM_000296.3:c.12173C>T	NP_000287.3:p.Ala4058Val
NM_001009944.2:c.12176C>T	NP_001009944.2:p.Ala4059Val
XM_005255370.2:c.9131C>T	XP_005255427.1:p.Ala3044Val
XM_011522525.1:c.12254C>T	XP_011520827.1:p.Ala4085Val
XM_011522526.1:c.12251C>T	XP_011520828.1:p.Ala4084Val
XM_011522527.1:c.12236C>T	XP_011520829.1:p.Ala4079Val
XM_011522528.1:c.12230C>T	XP_011520830.1:p.Ala4077Val
XM_011522529.1:c.12227C>T	XP_011520831.1:p.Ala4076Val
XM_011522530.1:c.12200C>T	XP_011520832.1:p.Ala4067Val
XM_011522531.1:c.12182C>T	XP_011520833.1:p.Ala4061Val
XM_011522532.1:c.12128C>T	XP_011520834.1:p.Ala4043Val
XM_011522533.1:c.12047C>T	XP_011520835.1:p.Ala4016Val
XM_011522534.1:c.11990C>T	XP_011520836.1:p.Ala3997Val
XM_011522535.1:c.10076C>T	XP_011520837.1:p.Ala3359Val
XM_011522537.1:c.9254C>T	XP_011520839.1:p.Ala3085Val
XR_932867.1:n.12094C>T
XM_005255370.3:c.9131C>T	XP_005255427.1:p.Ala3044Val
XM_011522528.3:c.12230C>T	XP_011520830.1:p.Ala4077Val
XM_011522529.2:c.12227C>T	XP_011520831.1:p.Ala4076Val
XM_011522537.2:c.9254C>T	XP_011520839.1:p.Ala3085Val
XM_024450298.1:c.12296C>T	XP_024306066.1:p.Ala4099Val
XM_024450299.1:c.12224C>T	XP_024306067.1:p.Ala4075Val
XM_024450300.1:c.12086C>T	XP_024306068.1:p.Ala4029Val
XM_024450301.1:c.10172C>T	XP_024306069.1:p.Ala3391Val
NM_000296.4:c.12173C>T	NP_000287.4:p.Ala4058Val
NM_001009944.3:c.12176C>T MANE Select	NP_001009944.3:p.Ala4059Val