Canonical Allele Identifier: CA394382847

Gene: PKD1

Linked Data

• dbSNP Id: rs1231392891
• gnomAD v2: 16-2161603-C-T
• gnomAD v4: 16-2111602-C-T
• MyVariant Identifiers: chr16:g.2161603C>T (hg19) ; chr16:g.2111602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111602C>T , CM000678.2:g.2111602C>T	GRCh38
NC_000016.9:g.2161603C>T , CM000678.1:g.2161603C>T	GRCh37
NC_000016.8:g.2101604C>T	NCBI36
NG_008617.1:g.29297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3565G>A MANE Select	ENSP00000262304.4:p.Val1189Met
ENST00000262304.8:c.3565G>A	ENSP00000262304.4:p.Val1189Met
ENST00000415938.7:n.310+738G>A
ENST00000423118.5:c.3565G>A	ENSP00000399501.1:p.Val1189Met
ENST00000468674.5:n.430+738G>A
ENST00000469241.2:n.515G>A
ENST00000483024.1:c.233+214G>A
ENST00000483731.5:n.790+738G>A
ENST00000488185.2:c.473-3244G>A
ENST00000565639.6:n.773+738G>A
ENST00000568591.5:c.2226+738G>A	ENSP00000457162.1:n.2226+738G>A
ENST00000569983.5:n.421+738G>A
NM_000296.3:c.3565G>A	NP_000287.3:p.Val1189Met
NM_001009944.2:c.3565G>A	NP_001009944.2:p.Val1189Met
XM_005255370.2:c.520G>A	XP_005255427.1:p.Val174Met
XM_011522525.1:c.3643G>A	XP_011520827.1:p.Val1215Met
XM_011522526.1:c.3643G>A	XP_011520828.1:p.Val1215Met
XM_011522527.1:c.3643G>A	XP_011520829.1:p.Val1215Met
XM_011522528.1:c.3619G>A	XP_011520830.1:p.Val1207Met
XM_011522529.1:c.3619G>A	XP_011520831.1:p.Val1207Met
XM_011522530.1:c.3589G>A	XP_011520832.1:p.Val1197Met
XM_011522531.1:c.3571G>A	XP_011520833.1:p.Val1191Met
XM_011522532.1:c.3517G>A	XP_011520834.1:p.Val1173Met
XM_011522533.1:c.3436G>A	XP_011520835.1:p.Val1146Met
XM_011522534.1:c.3379G>A	XP_011520836.1:p.Val1127Met
XM_011522535.1:c.1465G>A	XP_011520837.1:p.Val489Met
XM_011522536.1:c.3643G>A	XP_011520838.1:p.Val1215Met
XM_011522537.1:c.643G>A	XP_011520839.1:p.Val215Met
XR_932867.1:n.3658G>A
XR_932868.1:n.3658G>A
XR_932869.1:n.3658G>A
XR_932870.1:n.3658G>A
XM_005255370.3:c.520G>A	XP_005255427.1:p.Val174Met
XM_011522528.3:c.3619G>A	XP_011520830.1:p.Val1207Met
XM_011522529.2:c.3619G>A	XP_011520831.1:p.Val1207Met
XM_011522537.2:c.643G>A	XP_011520839.1:p.Val215Met
XM_024450298.1:c.3685G>A	XP_024306066.1:p.Val1229Met
XM_024450299.1:c.3613G>A	XP_024306067.1:p.Val1205Met
XM_024450300.1:c.3475G>A	XP_024306068.1:p.Val1159Met
XM_024450301.1:c.1561G>A	XP_024306069.1:p.Val521Met
NM_000296.4:c.3565G>A	NP_000287.4:p.Val1189Met
NM_001009944.3:c.3565G>A MANE Select	NP_001009944.3:p.Val1189Met