Canonical Allele Identifier: CA394348407

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2097917G>T , CM000678.2:g.2097917G>T	GRCh38
NC_000016.9:g.2147918G>T , CM000678.1:g.2147918G>T	GRCh37
NC_000016.8:g.2087919G>T	NCBI36
NG_008617.1:g.45304C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.10118C>A MANE Select	NP_001009944.3:p.Ser3373Ter
ENST00000262304.9:c.10118C>A MANE Select	ENSP00000262304.4:p.Ser3373Ter
NM_000296.3:c.10118C>A	NP_000287.3:p.Ser3373Ter
NM_000296.4:c.10118C>A	NP_000287.4:p.Ser3373Ter
NM_001009944.2:c.10118C>A	NP_001009944.2:p.Ser3373Ter
ENST00000262304.8:c.10118C>A	ENSP00000262304.4:p.Ser3373Ter
ENST00000415938.7:n.3197C>A
ENST00000423118.5:c.10118C>A	ENSP00000399501.1:p.Ser3373Ter
ENST00000483731.5:n.4004C>A
ENST00000486339.6:n.4254C>A
ENST00000487932.5:c.4680C>A	ENSP00000457132.1:n.4680C>A
ENST00000496574.6:n.4354C>A
ENST00000562297.5:n.1851C>A
ENST00000566784.5:n.435C>A
ENST00000566905.5:n.481C>A
ENST00000567946.1:c.1720C>A
ENST00000570253.5:n.414C>A
XM_005255370.2:c.7073C>A	XP_005255427.1:p.Ser2358Ter
XM_005255370.3:c.7073C>A	XP_005255427.1:p.Ser2358Ter
XM_011522525.1:c.10196C>A	XP_011520827.1:p.Ser3399Ter
XM_011522526.1:c.10196C>A	XP_011520828.1:p.Ser3399Ter
XM_011522527.1:c.10178C>A	XP_011520829.1:p.Ser3393Ter
XM_011522528.1:c.10172C>A	XP_011520830.1:p.Ser3391Ter
XM_011522528.3:c.10172C>A	XP_011520830.1:p.Ser3391Ter
XM_011522529.1:c.10172C>A	XP_011520831.1:p.Ser3391Ter
XM_011522529.2:c.10172C>A	XP_011520831.1:p.Ser3391Ter
XM_011522530.1:c.10142C>A	XP_011520832.1:p.Ser3381Ter
XM_011522531.1:c.10124C>A	XP_011520833.1:p.Ser3375Ter
XM_011522532.1:c.10070C>A	XP_011520834.1:p.Ser3357Ter
XM_011522533.1:c.9989C>A	XP_011520835.1:p.Ser3330Ter
XM_011522534.1:c.9932C>A	XP_011520836.1:p.Ser3311Ter
XM_011522535.1:c.8018C>A	XP_011520837.1:p.Ser2673Ter
XM_011522537.1:c.7196C>A	XP_011520839.1:p.Ser2399Ter
XM_011522537.2:c.7196C>A	XP_011520839.1:p.Ser2399Ter
XM_024450298.1:c.10238C>A	XP_024306066.1:p.Ser3413Ter
XM_024450299.1:c.10166C>A	XP_024306067.1:p.Ser3389Ter
XM_024450300.1:c.10028C>A	XP_024306068.1:p.Ser3343Ter
XM_024450301.1:c.8114C>A	XP_024306069.1:p.Ser2705Ter
XR_932867.1:n.10211C>A
XR_932868.1:n.10211C>A
XR_932869.1:n.10211C>A
XR_932870.1:n.10211C>A