Canonical Allele Identifier: CA394326640

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140562C>T (hg19) ; chr16:g.2090561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090561C>T , CM000678.2:g.2090561C>T	GRCh38
NC_000016.9:g.2140562C>T , CM000678.1:g.2140562C>T	GRCh37
NC_000016.8:g.2080563C>T	NCBI36
NG_005895.1:g.46256C>T , LRG_487:g.46256C>T
NG_008617.1:g.52660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12168G>A MANE Select	ENSP00000262304.4:p.Trp4056Ter
ENST00000262304.8:c.12168G>A	ENSP00000262304.4:p.Trp4056Ter
ENST00000423118.5:c.12165G>A	ENSP00000399501.1:p.Trp4055Ter
ENST00000472577.1:n.196G>A
NM_000296.3:c.12165G>A	NP_000287.3:p.Trp4055Ter
NM_001009944.2:c.12168G>A	NP_001009944.2:p.Trp4056Ter
XM_005255370.2:c.9123G>A	XP_005255427.1:p.Trp3041Ter
XM_011522525.1:c.12246G>A	XP_011520827.1:p.Trp4082Ter
XM_011522526.1:c.12243G>A	XP_011520828.1:p.Trp4081Ter
XM_011522527.1:c.12228G>A	XP_011520829.1:p.Trp4076Ter
XM_011522528.1:c.12222G>A	XP_011520830.1:p.Trp4074Ter
XM_011522529.1:c.12219G>A	XP_011520831.1:p.Trp4073Ter
XM_011522530.1:c.12192G>A	XP_011520832.1:p.Trp4064Ter
XM_011522531.1:c.12174G>A	XP_011520833.1:p.Trp4058Ter
XM_011522532.1:c.12120G>A	XP_011520834.1:p.Trp4040Ter
XM_011522533.1:c.12039G>A	XP_011520835.1:p.Trp4013Ter
XM_011522534.1:c.11982G>A	XP_011520836.1:p.Trp3994Ter
XM_011522535.1:c.10068G>A	XP_011520837.1:p.Trp3356Ter
XM_011522537.1:c.9246G>A	XP_011520839.1:p.Trp3082Ter
XR_932867.1:n.12086G>A
XM_005255370.3:c.9123G>A	XP_005255427.1:p.Trp3041Ter
XM_011522528.3:c.12222G>A	XP_011520830.1:p.Trp4074Ter
XM_011522529.2:c.12219G>A	XP_011520831.1:p.Trp4073Ter
XM_011522537.2:c.9246G>A	XP_011520839.1:p.Trp3082Ter
XM_024450298.1:c.12288G>A	XP_024306066.1:p.Trp4096Ter
XM_024450299.1:c.12216G>A	XP_024306067.1:p.Trp4072Ter
XM_024450300.1:c.12078G>A	XP_024306068.1:p.Trp4026Ter
XM_024450301.1:c.10164G>A	XP_024306069.1:p.Trp3388Ter
NM_000296.4:c.12165G>A	NP_000287.4:p.Trp4055Ter
NM_001009944.3:c.12168G>A MANE Select	NP_001009944.3:p.Trp4056Ter