Canonical Allele Identifier: CA16043505

Gene: PKD1

Linked Data

• ClinVar Variation Id: 374097
• ClinVar RCV Id: RCV000415041 ; RCV000518237 ; RCV000763371 ; RCV001254205 ; RCV001292353
• dbSNP Id: rs1057518897
• gnomAD v3: 16-2103746-C-T
• gnomAD v4: 16-2103746-C-T
• MyVariant Identifiers: chr16:g.2153747C>T (hg19) ; chr16:g.2103746C>T (hg38)
• PubMed: PMID:11115377 ; PMID:12482949 ; PMID:12842373 ; PMID:16430766 ; PMID:17574468 ; PMID:17582161 ; PMID:22333914 ; PMID:22508176 ; PMID:23064367 ; PMID:23431072 ; PMID:23760289 ; PMID:24694054 ; PMID:25333066 ; PMID:26632257 ; PMID:27499327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103746C>T , CM000678.2:g.2103746C>T	GRCh38
NC_000016.9:g.2153747C>T , CM000678.1:g.2153747C>T	GRCh37
NC_000016.8:g.2093748C>T	NCBI36
NG_008617.1:g.39475G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.8311G>A MANE Select	ENSP00000262304.4:p.Glu2771Lys
ENST00000262304.8:c.8311G>A	ENSP00000262304.4:p.Glu2771Lys
ENST00000415938.7:n.1556G>A
ENST00000423118.5:c.8311G>A	ENSP00000399501.1:p.Glu2771Lys
ENST00000480227.5:n.48G>A
ENST00000483731.5:n.2036G>A
ENST00000486339.6:n.2447G>A
ENST00000487932.5:c.2998G>A	ENSP00000457132.1:p.Glu1000Lys
ENST00000496574.6:n.2547G>A
ENST00000561991.5:n.833G>A
ENST00000562297.5:n.44G>A
ENST00000567946.1:c.372G>A
NM_000296.3:c.8311G>A	NP_000287.3:p.Glu2771Lys
NM_001009944.2:c.8311G>A	NP_001009944.2:p.Glu2771Lys
XM_005255370.2:c.5266G>A	XP_005255427.1:p.Glu1756Lys
XM_011522525.1:c.8389G>A	XP_011520827.1:p.Glu2797Lys
XM_011522526.1:c.8389G>A	XP_011520828.1:p.Glu2797Lys
XM_011522527.1:c.8389G>A	XP_011520829.1:p.Glu2797Lys
XM_011522528.1:c.8365G>A	XP_011520830.1:p.Glu2789Lys
XM_011522529.1:c.8365G>A	XP_011520831.1:p.Glu2789Lys
XM_011522530.1:c.8335G>A	XP_011520832.1:p.Glu2779Lys
XM_011522531.1:c.8317G>A	XP_011520833.1:p.Glu2773Lys
XM_011522532.1:c.8263G>A	XP_011520834.1:p.Glu2755Lys
XM_011522533.1:c.8182G>A	XP_011520835.1:p.Glu2728Lys
XM_011522534.1:c.8125G>A	XP_011520836.1:p.Glu2709Lys
XM_011522535.1:c.6211G>A	XP_011520837.1:p.Glu2071Lys
XM_011522536.1:c.8389G>A	XP_011520838.1:p.Glu2797Lys
XM_011522537.1:c.5389G>A	XP_011520839.1:p.Glu1797Lys
XR_932867.1:n.8404G>A
XR_932868.1:n.8404G>A
XR_932869.1:n.8404G>A
XR_932870.1:n.8404G>A
XM_005255370.3:c.5266G>A	XP_005255427.1:p.Glu1756Lys
XM_011522528.3:c.8365G>A	XP_011520830.1:p.Glu2789Lys
XM_011522529.2:c.8365G>A	XP_011520831.1:p.Glu2789Lys
XM_011522537.2:c.5389G>A	XP_011520839.1:p.Glu1797Lys
XM_024450298.1:c.8431G>A	XP_024306066.1:p.Glu2811Lys
XM_024450299.1:c.8359G>A	XP_024306067.1:p.Glu2787Lys
XM_024450300.1:c.8221G>A	XP_024306068.1:p.Glu2741Lys
XM_024450301.1:c.6307G>A	XP_024306069.1:p.Glu2103Lys
NM_000296.4:c.8311G>A	NP_000287.4:p.Glu2771Lys
NM_001009944.3:c.8311G>A MANE Select	NP_001009944.3:p.Glu2771Lys