Canonical Allele Identifier: CA493049865

Gene: PKD1

Linked Data

• dbSNP Id: rs1567203724
• gnomAD v4: 16-2111693-A-C
• MyVariant Identifiers: chr16:g.2161694A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111693A>C , CM000678.2:g.2111693A>C	GRCh38
NC_000016.9:g.2161694A>C , CM000678.1:g.2161694A>C	GRCh37
NC_000016.8:g.2101695A>C	NCBI36
NG_008617.1:g.29206T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3474T>G MANE Select	ENSP00000262304.4:p.Leu1158=
ENST00000262304.8:c.3474T>G	ENSP00000262304.4:p.Leu1158=
ENST00000415938.7:n.310+647T>G
ENST00000423118.5:c.3474T>G	ENSP00000399501.1:p.Leu1158=
ENST00000468674.5:n.430+647T>G
ENST00000469241.2:n.424T>G
ENST00000483024.1:c.233+123T>G
ENST00000483731.5:n.790+647T>G
ENST00000488185.2:c.473-3335T>G
ENST00000565639.6:n.773+647T>G
ENST00000568591.5:c.2226+647T>G	ENSP00000457162.1:n.2226+647T>G
ENST00000569983.5:n.421+647T>G
NM_000296.3:c.3474T>G	NP_000287.3:p.Leu1158=
NM_001009944.2:c.3474T>G	NP_001009944.2:p.Leu1158=
XM_005255370.2:c.429T>G	XP_005255427.1:p.Leu143=
XM_011522525.1:c.3552T>G	XP_011520827.1:p.Leu1184=
XM_011522526.1:c.3552T>G	XP_011520828.1:p.Leu1184=
XM_011522527.1:c.3552T>G	XP_011520829.1:p.Leu1184=
XM_011522528.1:c.3528T>G	XP_011520830.1:p.Leu1176=
XM_011522529.1:c.3528T>G	XP_011520831.1:p.Leu1176=
XM_011522530.1:c.3498T>G	XP_011520832.1:p.Leu1166=
XM_011522531.1:c.3480T>G	XP_011520833.1:p.Leu1160=
XM_011522532.1:c.3426T>G	XP_011520834.1:p.Leu1142=
XM_011522533.1:c.3345T>G	XP_011520835.1:p.Leu1115=
XM_011522534.1:c.3288T>G	XP_011520836.1:p.Leu1096=
XM_011522535.1:c.1374T>G	XP_011520837.1:p.Leu458=
XM_011522536.1:c.3552T>G	XP_011520838.1:p.Leu1184=
XM_011522537.1:c.552T>G	XP_011520839.1:p.Leu184=
XR_932867.1:n.3567T>G
XR_932868.1:n.3567T>G
XR_932869.1:n.3567T>G
XR_932870.1:n.3567T>G
XM_005255370.3:c.429T>G	XP_005255427.1:p.Leu143=
XM_011522528.3:c.3528T>G	XP_011520830.1:p.Leu1176=
XM_011522529.2:c.3528T>G	XP_011520831.1:p.Leu1176=
XM_011522537.2:c.552T>G	XP_011520839.1:p.Leu184=
XM_024450298.1:c.3594T>G	XP_024306066.1:p.Leu1198=
XM_024450299.1:c.3522T>G	XP_024306067.1:p.Leu1174=
XM_024450300.1:c.3384T>G	XP_024306068.1:p.Leu1128=
XM_024450301.1:c.1470T>G	XP_024306069.1:p.Leu490=
NM_000296.4:c.3474T>G	NP_000287.4:p.Leu1158=
NM_001009944.3:c.3474T>G MANE Select	NP_001009944.3:p.Leu1158=