Canonical Allele Identifier: CA394371101

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106632-C-A
• MyVariant Identifiers: chr16:g.2156633C>A (hg19) ; chr16:g.2106632C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106632C>A , CM000678.2:g.2106632C>A	GRCh38
NC_000016.9:g.2156633C>A , CM000678.1:g.2156633C>A	GRCh37
NC_000016.8:g.2096634C>A	NCBI36
NG_008617.1:g.34267G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7255G>T MANE Select	ENSP00000262304.4:p.Glu2419Ter
ENST00000262304.8:c.7255G>T	ENSP00000262304.4:p.Glu2419Ter
ENST00000415938.7:n.500G>T
ENST00000423118.5:c.7255G>T	ENSP00000399501.1:p.Glu2419Ter
ENST00000483024.1:c.423G>T
ENST00000483558.5:n.314G>T
ENST00000483731.5:n.980G>T
ENST00000486339.6:n.1001G>T
ENST00000487932.5:c.1942G>T	ENSP00000457132.1:p.Glu648Ter
ENST00000496574.6:n.1258G>T
ENST00000565639.6:n.963G>T
ENST00000568591.5:c.2416G>T	ENSP00000457162.1:n.2416G>T
ENST00000569983.5:n.611G>T
NM_000296.3:c.7255G>T	NP_000287.3:p.Glu2419Ter
NM_001009944.2:c.7255G>T	NP_001009944.2:p.Glu2419Ter
XM_005255370.2:c.4210G>T	XP_005255427.1:p.Glu1404Ter
XM_011522525.1:c.7333G>T	XP_011520827.1:p.Glu2445Ter
XM_011522526.1:c.7333G>T	XP_011520828.1:p.Glu2445Ter
XM_011522527.1:c.7333G>T	XP_011520829.1:p.Glu2445Ter
XM_011522528.1:c.7309G>T	XP_011520830.1:p.Glu2437Ter
XM_011522529.1:c.7309G>T	XP_011520831.1:p.Glu2437Ter
XM_011522530.1:c.7279G>T	XP_011520832.1:p.Glu2427Ter
XM_011522531.1:c.7261G>T	XP_011520833.1:p.Glu2421Ter
XM_011522532.1:c.7207G>T	XP_011520834.1:p.Glu2403Ter
XM_011522533.1:c.7126G>T	XP_011520835.1:p.Glu2376Ter
XM_011522534.1:c.7069G>T	XP_011520836.1:p.Glu2357Ter
XM_011522535.1:c.5155G>T	XP_011520837.1:p.Glu1719Ter
XM_011522536.1:c.7333G>T	XP_011520838.1:p.Glu2445Ter
XM_011522537.1:c.4333G>T	XP_011520839.1:p.Glu1445Ter
XR_932867.1:n.7348G>T
XR_932868.1:n.7348G>T
XR_932869.1:n.7348G>T
XR_932870.1:n.7348G>T
XM_005255370.3:c.4210G>T	XP_005255427.1:p.Glu1404Ter
XM_011522528.3:c.7309G>T	XP_011520830.1:p.Glu2437Ter
XM_011522529.2:c.7309G>T	XP_011520831.1:p.Glu2437Ter
XM_011522537.2:c.4333G>T	XP_011520839.1:p.Glu1445Ter
XM_024450298.1:c.7375G>T	XP_024306066.1:p.Glu2459Ter
XM_024450299.1:c.7303G>T	XP_024306067.1:p.Glu2435Ter
XM_024450300.1:c.7165G>T	XP_024306068.1:p.Glu2389Ter
XM_024450301.1:c.5251G>T	XP_024306069.1:p.Glu1751Ter
NM_000296.4:c.7255G>T	NP_000287.4:p.Glu2419Ter
NM_001009944.3:c.7255G>T MANE Select	NP_001009944.3:p.Glu2419Ter