Canonical Allele Identifier: CA394370387

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106598-C-A
• MyVariant Identifiers: chr16:g.2156599C>A (hg19) ; chr16:g.2106598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106598C>A , CM000678.2:g.2106598C>A	GRCh38
NC_000016.9:g.2156599C>A , CM000678.1:g.2156599C>A	GRCh37
NC_000016.8:g.2096600C>A	NCBI36
NG_008617.1:g.34301G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7289G>T MANE Select	ENSP00000262304.4:p.Arg2430Leu
ENST00000262304.8:c.7289G>T	ENSP00000262304.4:p.Arg2430Leu
ENST00000415938.7:n.534G>T
ENST00000423118.5:c.7289G>T	ENSP00000399501.1:p.Arg2430Leu
ENST00000483024.1:c.457G>T
ENST00000483558.5:n.348G>T
ENST00000483731.5:n.1014G>T
ENST00000486339.6:n.1035G>T
ENST00000487932.5:c.1976G>T	ENSP00000457132.1:p.Arg659Leu
ENST00000496574.6:n.1292G>T
ENST00000565639.6:n.997G>T
ENST00000568591.5:c.2450G>T	ENSP00000457162.1:n.2450G>T
ENST00000569983.5:n.645G>T
NM_000296.3:c.7289G>T	NP_000287.3:p.Arg2430Leu
NM_001009944.2:c.7289G>T	NP_001009944.2:p.Arg2430Leu
XM_005255370.2:c.4244G>T	XP_005255427.1:p.Arg1415Leu
XM_011522525.1:c.7367G>T	XP_011520827.1:p.Arg2456Leu
XM_011522526.1:c.7367G>T	XP_011520828.1:p.Arg2456Leu
XM_011522527.1:c.7367G>T	XP_011520829.1:p.Arg2456Leu
XM_011522528.1:c.7343G>T	XP_011520830.1:p.Arg2448Leu
XM_011522529.1:c.7343G>T	XP_011520831.1:p.Arg2448Leu
XM_011522530.1:c.7313G>T	XP_011520832.1:p.Arg2438Leu
XM_011522531.1:c.7295G>T	XP_011520833.1:p.Arg2432Leu
XM_011522532.1:c.7241G>T	XP_011520834.1:p.Arg2414Leu
XM_011522533.1:c.7160G>T	XP_011520835.1:p.Arg2387Leu
XM_011522534.1:c.7103G>T	XP_011520836.1:p.Arg2368Leu
XM_011522535.1:c.5189G>T	XP_011520837.1:p.Arg1730Leu
XM_011522536.1:c.7367G>T	XP_011520838.1:p.Arg2456Leu
XM_011522537.1:c.4367G>T	XP_011520839.1:p.Arg1456Leu
XR_932867.1:n.7382G>T
XR_932868.1:n.7382G>T
XR_932869.1:n.7382G>T
XR_932870.1:n.7382G>T
XM_005255370.3:c.4244G>T	XP_005255427.1:p.Arg1415Leu
XM_011522528.3:c.7343G>T	XP_011520830.1:p.Arg2448Leu
XM_011522529.2:c.7343G>T	XP_011520831.1:p.Arg2448Leu
XM_011522537.2:c.4367G>T	XP_011520839.1:p.Arg1456Leu
XM_024450298.1:c.7409G>T	XP_024306066.1:p.Arg2470Leu
XM_024450299.1:c.7337G>T	XP_024306067.1:p.Arg2446Leu
XM_024450300.1:c.7199G>T	XP_024306068.1:p.Arg2400Leu
XM_024450301.1:c.5285G>T	XP_024306069.1:p.Arg1762Leu
NM_000296.4:c.7289G>T	NP_000287.4:p.Arg2430Leu
NM_001009944.3:c.7289G>T MANE Select	NP_001009944.3:p.Arg2430Leu