Canonical Allele Identifier: CA394325803

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140456C>A (hg19) ; chr16:g.2090455C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12274G>T MANE Select	ENSP00000262304.4:p.Ala4092Ser
ENST00000262304.8:c.12274G>T	ENSP00000262304.4:p.Ala4092Ser
ENST00000423118.5:c.12271G>T	ENSP00000399501.1:p.Ala4091Ser
ENST00000472577.1:n.302G>T
NM_000296.3:c.12271G>T	NP_000287.3:p.Ala4091Ser
NM_001009944.2:c.12274G>T	NP_001009944.2:p.Ala4092Ser
XM_005255370.2:c.9229G>T	XP_005255427.1:p.Ala3077Ser
XM_011522525.1:c.12352G>T	XP_011520827.1:p.Ala4118Ser
XM_011522526.1:c.12349G>T	XP_011520828.1:p.Ala4117Ser
XM_011522527.1:c.12334G>T	XP_011520829.1:p.Ala4112Ser
XM_011522528.1:c.12328G>T	XP_011520830.1:p.Ala4110Ser
XM_011522529.1:c.12325G>T	XP_011520831.1:p.Ala4109Ser
XM_011522530.1:c.12298G>T	XP_011520832.1:p.Ala4100Ser
XM_011522531.1:c.12280G>T	XP_011520833.1:p.Ala4094Ser
XM_011522532.1:c.12226G>T	XP_011520834.1:p.Ala4076Ser
XM_011522533.1:c.12145G>T	XP_011520835.1:p.Ala4049Ser
XM_011522534.1:c.12088G>T	XP_011520836.1:p.Ala4030Ser
XM_011522535.1:c.10174G>T	XP_011520837.1:p.Ala3392Ser
XM_011522537.1:c.9352G>T	XP_011520839.1:p.Ala3118Ser
XR_932867.1:n.12192G>T
XM_005255370.3:c.9229G>T	XP_005255427.1:p.Ala3077Ser
XM_011522528.3:c.12328G>T	XP_011520830.1:p.Ala4110Ser
XM_011522529.2:c.12325G>T	XP_011520831.1:p.Ala4109Ser
XM_011522537.2:c.9352G>T	XP_011520839.1:p.Ala3118Ser
XM_024450298.1:c.12394G>T	XP_024306066.1:p.Ala4132Ser
XM_024450299.1:c.12322G>T	XP_024306067.1:p.Ala4108Ser
XM_024450300.1:c.12184G>T	XP_024306068.1:p.Ala4062Ser
XM_024450301.1:c.10270G>T	XP_024306069.1:p.Ala3424Ser
NM_000296.4:c.12271G>T	NP_000287.4:p.Ala4091Ser
NM_001009944.3:c.12274G>T MANE Select	NP_001009944.3:p.Ala4092Ser