Canonical Allele Identifier: CA394382733

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111541-A-G
• MyVariant Identifiers: chr16:g.2161542A>G (hg19) ; chr16:g.2111541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111541A>G , CM000678.2:g.2111541A>G	GRCh38
NC_000016.9:g.2161542A>G , CM000678.1:g.2161542A>G	GRCh37
NC_000016.8:g.2101543A>G	NCBI36
NG_008617.1:g.29358T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3626T>C MANE Select	ENSP00000262304.4:p.Phe1209Ser
ENST00000262304.8:c.3626T>C	ENSP00000262304.4:p.Phe1209Ser
ENST00000415938.7:n.310+799T>C
ENST00000423118.5:c.3626T>C	ENSP00000399501.1:p.Phe1209Ser
ENST00000468674.5:n.430+799T>C
ENST00000469241.2:n.576T>C
ENST00000483024.1:c.233+275T>C
ENST00000483731.5:n.790+799T>C
ENST00000488185.2:c.473-3183T>C
ENST00000565639.6:n.773+799T>C
ENST00000568591.5:c.2226+799T>C	ENSP00000457162.1:n.2226+799T>C
ENST00000569983.5:n.421+799T>C
NM_000296.3:c.3626T>C	NP_000287.3:p.Phe1209Ser
NM_001009944.2:c.3626T>C	NP_001009944.2:p.Phe1209Ser
XM_005255370.2:c.581T>C	XP_005255427.1:p.Phe194Ser
XM_011522525.1:c.3704T>C	XP_011520827.1:p.Phe1235Ser
XM_011522526.1:c.3704T>C	XP_011520828.1:p.Phe1235Ser
XM_011522527.1:c.3704T>C	XP_011520829.1:p.Phe1235Ser
XM_011522528.1:c.3680T>C	XP_011520830.1:p.Phe1227Ser
XM_011522529.1:c.3680T>C	XP_011520831.1:p.Phe1227Ser
XM_011522530.1:c.3650T>C	XP_011520832.1:p.Phe1217Ser
XM_011522531.1:c.3632T>C	XP_011520833.1:p.Phe1211Ser
XM_011522532.1:c.3578T>C	XP_011520834.1:p.Phe1193Ser
XM_011522533.1:c.3497T>C	XP_011520835.1:p.Phe1166Ser
XM_011522534.1:c.3440T>C	XP_011520836.1:p.Phe1147Ser
XM_011522535.1:c.1526T>C	XP_011520837.1:p.Phe509Ser
XM_011522536.1:c.3704T>C	XP_011520838.1:p.Phe1235Ser
XM_011522537.1:c.704T>C	XP_011520839.1:p.Phe235Ser
XR_932867.1:n.3719T>C
XR_932868.1:n.3719T>C
XR_932869.1:n.3719T>C
XR_932870.1:n.3719T>C
XM_005255370.3:c.581T>C	XP_005255427.1:p.Phe194Ser
XM_011522528.3:c.3680T>C	XP_011520830.1:p.Phe1227Ser
XM_011522529.2:c.3680T>C	XP_011520831.1:p.Phe1227Ser
XM_011522537.2:c.704T>C	XP_011520839.1:p.Phe235Ser
XM_024450298.1:c.3746T>C	XP_024306066.1:p.Phe1249Ser
XM_024450299.1:c.3674T>C	XP_024306067.1:p.Phe1225Ser
XM_024450300.1:c.3536T>C	XP_024306068.1:p.Phe1179Ser
XM_024450301.1:c.1622T>C	XP_024306069.1:p.Phe541Ser
NM_000296.4:c.3626T>C	NP_000287.4:p.Phe1209Ser
NM_001009944.3:c.3626T>C MANE Select	NP_001009944.3:p.Phe1209Ser