Canonical Allele Identifier: CA394325728

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140446A>T (hg19) ; chr16:g.2090445A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090445A>T , CM000678.2:g.2090445A>T	GRCh38
NC_000016.9:g.2140446A>T , CM000678.1:g.2140446A>T	GRCh37
NC_000016.8:g.2080447A>T	NCBI36
NG_005895.1:g.46140A>T , LRG_487:g.46140A>T
NG_008617.1:g.52776T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12284T>A MANE Select	ENSP00000262304.4:p.Leu4095Gln
ENST00000262304.8:c.12284T>A	ENSP00000262304.4:p.Leu4095Gln
ENST00000423118.5:c.12281T>A	ENSP00000399501.1:p.Leu4094Gln
ENST00000472577.1:n.312T>A
NM_000296.3:c.12281T>A	NP_000287.3:p.Leu4094Gln
NM_001009944.2:c.12284T>A	NP_001009944.2:p.Leu4095Gln
XM_005255370.2:c.9239T>A	XP_005255427.1:p.Leu3080Gln
XM_011522525.1:c.12362T>A	XP_011520827.1:p.Leu4121Gln
XM_011522526.1:c.12359T>A	XP_011520828.1:p.Leu4120Gln
XM_011522527.1:c.12344T>A	XP_011520829.1:p.Leu4115Gln
XM_011522528.1:c.12338T>A	XP_011520830.1:p.Leu4113Gln
XM_011522529.1:c.12335T>A	XP_011520831.1:p.Leu4112Gln
XM_011522530.1:c.12308T>A	XP_011520832.1:p.Leu4103Gln
XM_011522531.1:c.12290T>A	XP_011520833.1:p.Leu4097Gln
XM_011522532.1:c.12236T>A	XP_011520834.1:p.Leu4079Gln
XM_011522533.1:c.12155T>A	XP_011520835.1:p.Leu4052Gln
XM_011522534.1:c.12098T>A	XP_011520836.1:p.Leu4033Gln
XM_011522535.1:c.10184T>A	XP_011520837.1:p.Leu3395Gln
XM_011522537.1:c.9362T>A	XP_011520839.1:p.Leu3121Gln
XR_932867.1:n.12202T>A
XM_005255370.3:c.9239T>A	XP_005255427.1:p.Leu3080Gln
XM_011522528.3:c.12338T>A	XP_011520830.1:p.Leu4113Gln
XM_011522529.2:c.12335T>A	XP_011520831.1:p.Leu4112Gln
XM_011522537.2:c.9362T>A	XP_011520839.1:p.Leu3121Gln
XM_024450298.1:c.12404T>A	XP_024306066.1:p.Leu4135Gln
XM_024450299.1:c.12332T>A	XP_024306067.1:p.Leu4111Gln
XM_024450300.1:c.12194T>A	XP_024306068.1:p.Leu4065Gln
XM_024450301.1:c.10280T>A	XP_024306069.1:p.Leu3427Gln
NM_000296.4:c.12281T>A	NP_000287.4:p.Leu4094Gln
NM_001009944.3:c.12284T>A MANE Select	NP_001009944.3:p.Leu4095Gln