Canonical Allele Identifier: CA394382826

Gene: PKD1

Linked Data

• dbSNP Id: rs749818126
• MyVariant Identifiers: chr16:g.2161591C>A (hg19) ; chr16:g.2111590C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111590C>A , CM000678.2:g.2111590C>A	GRCh38
NC_000016.9:g.2161591C>A , CM000678.1:g.2161591C>A	GRCh37
NC_000016.8:g.2101592C>A	NCBI36
NG_008617.1:g.29309G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3577G>T MANE Select	ENSP00000262304.4:p.Val1193Phe
ENST00000262304.8:c.3577G>T	ENSP00000262304.4:p.Val1193Phe
ENST00000415938.7:n.310+750G>T
ENST00000423118.5:c.3577G>T	ENSP00000399501.1:p.Val1193Phe
ENST00000468674.5:n.430+750G>T
ENST00000469241.2:n.527G>T
ENST00000483024.1:c.233+226G>T
ENST00000483731.5:n.790+750G>T
ENST00000488185.2:c.473-3232G>T
ENST00000565639.6:n.773+750G>T
ENST00000568591.5:c.2226+750G>T	ENSP00000457162.1:n.2226+750G>T
ENST00000569983.5:n.421+750G>T
NM_000296.3:c.3577G>T	NP_000287.3:p.Val1193Phe
NM_001009944.2:c.3577G>T	NP_001009944.2:p.Val1193Phe
XM_005255370.2:c.532G>T	XP_005255427.1:p.Val178Phe
XM_011522525.1:c.3655G>T	XP_011520827.1:p.Val1219Phe
XM_011522526.1:c.3655G>T	XP_011520828.1:p.Val1219Phe
XM_011522527.1:c.3655G>T	XP_011520829.1:p.Val1219Phe
XM_011522528.1:c.3631G>T	XP_011520830.1:p.Val1211Phe
XM_011522529.1:c.3631G>T	XP_011520831.1:p.Val1211Phe
XM_011522530.1:c.3601G>T	XP_011520832.1:p.Val1201Phe
XM_011522531.1:c.3583G>T	XP_011520833.1:p.Val1195Phe
XM_011522532.1:c.3529G>T	XP_011520834.1:p.Val1177Phe
XM_011522533.1:c.3448G>T	XP_011520835.1:p.Val1150Phe
XM_011522534.1:c.3391G>T	XP_011520836.1:p.Val1131Phe
XM_011522535.1:c.1477G>T	XP_011520837.1:p.Val493Phe
XM_011522536.1:c.3655G>T	XP_011520838.1:p.Val1219Phe
XM_011522537.1:c.655G>T	XP_011520839.1:p.Val219Phe
XR_932867.1:n.3670G>T
XR_932868.1:n.3670G>T
XR_932869.1:n.3670G>T
XR_932870.1:n.3670G>T
XM_005255370.3:c.532G>T	XP_005255427.1:p.Val178Phe
XM_011522528.3:c.3631G>T	XP_011520830.1:p.Val1211Phe
XM_011522529.2:c.3631G>T	XP_011520831.1:p.Val1211Phe
XM_011522537.2:c.655G>T	XP_011520839.1:p.Val219Phe
XM_024450298.1:c.3697G>T	XP_024306066.1:p.Val1233Phe
XM_024450299.1:c.3625G>T	XP_024306067.1:p.Val1209Phe
XM_024450300.1:c.3487G>T	XP_024306068.1:p.Val1163Phe
XM_024450301.1:c.1573G>T	XP_024306069.1:p.Val525Phe
NM_000296.4:c.3577G>T	NP_000287.4:p.Val1193Phe
NM_001009944.3:c.3577G>T MANE Select	NP_001009944.3:p.Val1193Phe