Canonical Allele Identifier: CA493049315

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111594-C-A
• MyVariant Identifiers: chr16:g.2161595C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111594C>A , CM000678.2:g.2111594C>A	GRCh38
NC_000016.9:g.2161595C>A , CM000678.1:g.2161595C>A	GRCh37
NC_000016.8:g.2101596C>A	NCBI36
NG_008617.1:g.29305G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3573G>T MANE Select	ENSP00000262304.4:p.Leu1191=
ENST00000262304.8:c.3573G>T	ENSP00000262304.4:p.Leu1191=
ENST00000415938.7:n.310+746G>T
ENST00000423118.5:c.3573G>T	ENSP00000399501.1:p.Leu1191=
ENST00000468674.5:n.430+746G>T
ENST00000469241.2:n.523G>T
ENST00000483024.1:c.233+222G>T
ENST00000483731.5:n.790+746G>T
ENST00000488185.2:c.473-3236G>T
ENST00000565639.6:n.773+746G>T
ENST00000568591.5:c.2226+746G>T	ENSP00000457162.1:n.2226+746G>T
ENST00000569983.5:n.421+746G>T
NM_000296.3:c.3573G>T	NP_000287.3:p.Leu1191=
NM_001009944.2:c.3573G>T	NP_001009944.2:p.Leu1191=
XM_005255370.2:c.528G>T	XP_005255427.1:p.Leu176=
XM_011522525.1:c.3651G>T	XP_011520827.1:p.Leu1217=
XM_011522526.1:c.3651G>T	XP_011520828.1:p.Leu1217=
XM_011522527.1:c.3651G>T	XP_011520829.1:p.Leu1217=
XM_011522528.1:c.3627G>T	XP_011520830.1:p.Leu1209=
XM_011522529.1:c.3627G>T	XP_011520831.1:p.Leu1209=
XM_011522530.1:c.3597G>T	XP_011520832.1:p.Leu1199=
XM_011522531.1:c.3579G>T	XP_011520833.1:p.Leu1193=
XM_011522532.1:c.3525G>T	XP_011520834.1:p.Leu1175=
XM_011522533.1:c.3444G>T	XP_011520835.1:p.Leu1148=
XM_011522534.1:c.3387G>T	XP_011520836.1:p.Leu1129=
XM_011522535.1:c.1473G>T	XP_011520837.1:p.Leu491=
XM_011522536.1:c.3651G>T	XP_011520838.1:p.Leu1217=
XM_011522537.1:c.651G>T	XP_011520839.1:p.Leu217=
XR_932867.1:n.3666G>T
XR_932868.1:n.3666G>T
XR_932869.1:n.3666G>T
XR_932870.1:n.3666G>T
XM_005255370.3:c.528G>T	XP_005255427.1:p.Leu176=
XM_011522528.3:c.3627G>T	XP_011520830.1:p.Leu1209=
XM_011522529.2:c.3627G>T	XP_011520831.1:p.Leu1209=
XM_011522537.2:c.651G>T	XP_011520839.1:p.Leu217=
XM_024450298.1:c.3693G>T	XP_024306066.1:p.Leu1231=
XM_024450299.1:c.3621G>T	XP_024306067.1:p.Leu1207=
XM_024450300.1:c.3483G>T	XP_024306068.1:p.Leu1161=
XM_024450301.1:c.1569G>T	XP_024306069.1:p.Leu523=
NM_000296.4:c.3573G>T	NP_000287.4:p.Leu1191=
NM_001009944.3:c.3573G>T MANE Select	NP_001009944.3:p.Leu1191=