Canonical Allele Identifier: CA394382772

Gene: PKD1

Linked Data

• dbSNP Id: rs1186108367
• gnomAD v3: 16-2111563-C-A
• gnomAD v4: 16-2111563-C-A
• MyVariant Identifiers: chr16:g.2161564C>A (hg19) ; chr16:g.2111563C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111563C>A , CM000678.2:g.2111563C>A	GRCh38
NC_000016.9:g.2161564C>A , CM000678.1:g.2161564C>A	GRCh37
NC_000016.8:g.2101565C>A	NCBI36
NG_008617.1:g.29336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3604G>T MANE Select	ENSP00000262304.4:p.Ala1202Ser
ENST00000262304.8:c.3604G>T	ENSP00000262304.4:p.Ala1202Ser
ENST00000415938.7:n.310+777G>T
ENST00000423118.5:c.3604G>T	ENSP00000399501.1:p.Ala1202Ser
ENST00000468674.5:n.430+777G>T
ENST00000469241.2:n.554G>T
ENST00000483024.1:c.233+253G>T
ENST00000483731.5:n.790+777G>T
ENST00000488185.2:c.473-3205G>T
ENST00000565639.6:n.773+777G>T
ENST00000568591.5:c.2226+777G>T	ENSP00000457162.1:n.2226+777G>T
ENST00000569983.5:n.421+777G>T
NM_000296.3:c.3604G>T	NP_000287.3:p.Ala1202Ser
NM_001009944.2:c.3604G>T	NP_001009944.2:p.Ala1202Ser
XM_005255370.2:c.559G>T	XP_005255427.1:p.Ala187Ser
XM_011522525.1:c.3682G>T	XP_011520827.1:p.Ala1228Ser
XM_011522526.1:c.3682G>T	XP_011520828.1:p.Ala1228Ser
XM_011522527.1:c.3682G>T	XP_011520829.1:p.Ala1228Ser
XM_011522528.1:c.3658G>T	XP_011520830.1:p.Ala1220Ser
XM_011522529.1:c.3658G>T	XP_011520831.1:p.Ala1220Ser
XM_011522530.1:c.3628G>T	XP_011520832.1:p.Ala1210Ser
XM_011522531.1:c.3610G>T	XP_011520833.1:p.Ala1204Ser
XM_011522532.1:c.3556G>T	XP_011520834.1:p.Ala1186Ser
XM_011522533.1:c.3475G>T	XP_011520835.1:p.Ala1159Ser
XM_011522534.1:c.3418G>T	XP_011520836.1:p.Ala1140Ser
XM_011522535.1:c.1504G>T	XP_011520837.1:p.Ala502Ser
XM_011522536.1:c.3682G>T	XP_011520838.1:p.Ala1228Ser
XM_011522537.1:c.682G>T	XP_011520839.1:p.Ala228Ser
XR_932867.1:n.3697G>T
XR_932868.1:n.3697G>T
XR_932869.1:n.3697G>T
XR_932870.1:n.3697G>T
XM_005255370.3:c.559G>T	XP_005255427.1:p.Ala187Ser
XM_011522528.3:c.3658G>T	XP_011520830.1:p.Ala1220Ser
XM_011522529.2:c.3658G>T	XP_011520831.1:p.Ala1220Ser
XM_011522537.2:c.682G>T	XP_011520839.1:p.Ala228Ser
XM_024450298.1:c.3724G>T	XP_024306066.1:p.Ala1242Ser
XM_024450299.1:c.3652G>T	XP_024306067.1:p.Ala1218Ser
XM_024450300.1:c.3514G>T	XP_024306068.1:p.Ala1172Ser
XM_024450301.1:c.1600G>T	XP_024306069.1:p.Ala534Ser
NM_000296.4:c.3604G>T	NP_000287.4:p.Ala1202Ser
NM_001009944.3:c.3604G>T MANE Select	NP_001009944.3:p.Ala1202Ser