Canonical Allele Identifier: CA493049593

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161619C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111618C>G , CM000678.2:g.2111618C>G	GRCh38
NC_000016.9:g.2161619C>G , CM000678.1:g.2161619C>G	GRCh37
NC_000016.8:g.2101620C>G	NCBI36
NG_008617.1:g.29281G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3549G>C MANE Select	ENSP00000262304.4:p.Ser1183=
ENST00000262304.8:c.3549G>C	ENSP00000262304.4:p.Ser1183=
ENST00000415938.7:n.310+722G>C
ENST00000423118.5:c.3549G>C	ENSP00000399501.1:p.Ser1183=
ENST00000468674.5:n.430+722G>C
ENST00000469241.2:n.499G>C
ENST00000483024.1:c.233+198G>C
ENST00000483731.5:n.790+722G>C
ENST00000488185.2:c.473-3260G>C
ENST00000565639.6:n.773+722G>C
ENST00000568591.5:c.2226+722G>C	ENSP00000457162.1:n.2226+722G>C
ENST00000569983.5:n.421+722G>C
NM_000296.3:c.3549G>C	NP_000287.3:p.Ser1183=
NM_001009944.2:c.3549G>C	NP_001009944.2:p.Ser1183=
XM_005255370.2:c.504G>C	XP_005255427.1:p.Ser168=
XM_011522525.1:c.3627G>C	XP_011520827.1:p.Ser1209=
XM_011522526.1:c.3627G>C	XP_011520828.1:p.Ser1209=
XM_011522527.1:c.3627G>C	XP_011520829.1:p.Ser1209=
XM_011522528.1:c.3603G>C	XP_011520830.1:p.Ser1201=
XM_011522529.1:c.3603G>C	XP_011520831.1:p.Ser1201=
XM_011522530.1:c.3573G>C	XP_011520832.1:p.Ser1191=
XM_011522531.1:c.3555G>C	XP_011520833.1:p.Ser1185=
XM_011522532.1:c.3501G>C	XP_011520834.1:p.Ser1167=
XM_011522533.1:c.3420G>C	XP_011520835.1:p.Ser1140=
XM_011522534.1:c.3363G>C	XP_011520836.1:p.Ser1121=
XM_011522535.1:c.1449G>C	XP_011520837.1:p.Ser483=
XM_011522536.1:c.3627G>C	XP_011520838.1:p.Ser1209=
XM_011522537.1:c.627G>C	XP_011520839.1:p.Ser209=
XR_932867.1:n.3642G>C
XR_932868.1:n.3642G>C
XR_932869.1:n.3642G>C
XR_932870.1:n.3642G>C
XM_005255370.3:c.504G>C	XP_005255427.1:p.Ser168=
XM_011522528.3:c.3603G>C	XP_011520830.1:p.Ser1201=
XM_011522529.2:c.3603G>C	XP_011520831.1:p.Ser1201=
XM_011522537.2:c.627G>C	XP_011520839.1:p.Ser209=
XM_024450298.1:c.3669G>C	XP_024306066.1:p.Ser1223=
XM_024450299.1:c.3597G>C	XP_024306067.1:p.Ser1199=
XM_024450300.1:c.3459G>C	XP_024306068.1:p.Ser1153=
XM_024450301.1:c.1545G>C	XP_024306069.1:p.Ser515=
NM_000296.4:c.3549G>C	NP_000287.4:p.Ser1183=
NM_001009944.3:c.3549G>C MANE Select	NP_001009944.3:p.Ser1183=