Canonical Allele Identifier: CA394325813

Gene: PKD1

Linked Data

• dbSNP Id: rs1449143750
• gnomAD v2: 16-2140456-C-T
• gnomAD v4: 16-2090455-C-T
• MyVariant Identifiers: chr16:g.2140456C>T (hg19) ; chr16:g.2090455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090455C>T , CM000678.2:g.2090455C>T	GRCh38
NC_000016.9:g.2140456C>T , CM000678.1:g.2140456C>T	GRCh37
NC_000016.8:g.2080457C>T	NCBI36
NG_005895.1:g.46150C>T , LRG_487:g.46150C>T
NG_008617.1:g.52766G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12274G>A MANE Select	ENSP00000262304.4:p.Ala4092Thr
ENST00000262304.8:c.12274G>A	ENSP00000262304.4:p.Ala4092Thr
ENST00000423118.5:c.12271G>A	ENSP00000399501.1:p.Ala4091Thr
ENST00000472577.1:n.302G>A
NM_000296.3:c.12271G>A	NP_000287.3:p.Ala4091Thr
NM_001009944.2:c.12274G>A	NP_001009944.2:p.Ala4092Thr
XM_005255370.2:c.9229G>A	XP_005255427.1:p.Ala3077Thr
XM_011522525.1:c.12352G>A	XP_011520827.1:p.Ala4118Thr
XM_011522526.1:c.12349G>A	XP_011520828.1:p.Ala4117Thr
XM_011522527.1:c.12334G>A	XP_011520829.1:p.Ala4112Thr
XM_011522528.1:c.12328G>A	XP_011520830.1:p.Ala4110Thr
XM_011522529.1:c.12325G>A	XP_011520831.1:p.Ala4109Thr
XM_011522530.1:c.12298G>A	XP_011520832.1:p.Ala4100Thr
XM_011522531.1:c.12280G>A	XP_011520833.1:p.Ala4094Thr
XM_011522532.1:c.12226G>A	XP_011520834.1:p.Ala4076Thr
XM_011522533.1:c.12145G>A	XP_011520835.1:p.Ala4049Thr
XM_011522534.1:c.12088G>A	XP_011520836.1:p.Ala4030Thr
XM_011522535.1:c.10174G>A	XP_011520837.1:p.Ala3392Thr
XM_011522537.1:c.9352G>A	XP_011520839.1:p.Ala3118Thr
XR_932867.1:n.12192G>A
XM_005255370.3:c.9229G>A	XP_005255427.1:p.Ala3077Thr
XM_011522528.3:c.12328G>A	XP_011520830.1:p.Ala4110Thr
XM_011522529.2:c.12325G>A	XP_011520831.1:p.Ala4109Thr
XM_011522537.2:c.9352G>A	XP_011520839.1:p.Ala3118Thr
XM_024450298.1:c.12394G>A	XP_024306066.1:p.Ala4132Thr
XM_024450299.1:c.12322G>A	XP_024306067.1:p.Ala4108Thr
XM_024450300.1:c.12184G>A	XP_024306068.1:p.Ala4062Thr
XM_024450301.1:c.10270G>A	XP_024306069.1:p.Ala3424Thr
NM_000296.4:c.12271G>A	NP_000287.4:p.Ala4091Thr
NM_001009944.3:c.12274G>A MANE Select	NP_001009944.3:p.Ala4092Thr