Canonical Allele Identifier: CA394325109

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140371G>T (hg19) ; chr16:g.2090370G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090370G>T , CM000678.2:g.2090370G>T	GRCh38
NC_000016.9:g.2140371G>T , CM000678.1:g.2140371G>T	GRCh37
NC_000016.8:g.2080372G>T	NCBI36
NG_005895.1:g.46065G>T , LRG_487:g.46065G>T
NG_008617.1:g.52851C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12359C>A MANE Select	ENSP00000262304.4:p.Pro4120Gln
ENST00000262304.8:c.12359C>A	ENSP00000262304.4:p.Pro4120Gln
ENST00000423118.5:c.12356C>A	ENSP00000399501.1:p.Pro4119Gln
ENST00000472577.1:n.387C>A
NM_000296.3:c.12356C>A	NP_000287.3:p.Pro4119Gln
NM_001009944.2:c.12359C>A	NP_001009944.2:p.Pro4120Gln
XM_005255370.2:c.9314C>A	XP_005255427.1:p.Pro3105Gln
XM_011522525.1:c.12437C>A	XP_011520827.1:p.Pro4146Gln
XM_011522526.1:c.12434C>A	XP_011520828.1:p.Pro4145Gln
XM_011522527.1:c.12419C>A	XP_011520829.1:p.Pro4140Gln
XM_011522528.1:c.12413C>A	XP_011520830.1:p.Pro4138Gln
XM_011522529.1:c.12410C>A	XP_011520831.1:p.Pro4137Gln
XM_011522530.1:c.12383C>A	XP_011520832.1:p.Pro4128Gln
XM_011522531.1:c.12365C>A	XP_011520833.1:p.Pro4122Gln
XM_011522532.1:c.12311C>A	XP_011520834.1:p.Pro4104Gln
XM_011522533.1:c.12230C>A	XP_011520835.1:p.Pro4077Gln
XM_011522534.1:c.12173C>A	XP_011520836.1:p.Pro4058Gln
XM_011522535.1:c.10259C>A	XP_011520837.1:p.Pro3420Gln
XM_011522537.1:c.9437C>A	XP_011520839.1:p.Pro3146Gln
XR_932867.1:n.12277C>A
XM_005255370.3:c.9314C>A	XP_005255427.1:p.Pro3105Gln
XM_011522528.3:c.12413C>A	XP_011520830.1:p.Pro4138Gln
XM_011522529.2:c.12410C>A	XP_011520831.1:p.Pro4137Gln
XM_011522537.2:c.9437C>A	XP_011520839.1:p.Pro3146Gln
XM_024450298.1:c.12479C>A	XP_024306066.1:p.Pro4160Gln
XM_024450299.1:c.12407C>A	XP_024306067.1:p.Pro4136Gln
XM_024450300.1:c.12269C>A	XP_024306068.1:p.Pro4090Gln
XM_024450301.1:c.10355C>A	XP_024306069.1:p.Pro3452Gln
NM_000296.4:c.12356C>A	NP_000287.4:p.Pro4119Gln
NM_001009944.3:c.12359C>A MANE Select	NP_001009944.3:p.Pro4120Gln