Canonical Allele Identifier: CA394382996

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111678-G-C
• MyVariant Identifiers: chr16:g.2161679G>C (hg19) ; chr16:g.2111678G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111678G>C , CM000678.2:g.2111678G>C	GRCh38
NC_000016.9:g.2161679G>C , CM000678.1:g.2161679G>C	GRCh37
NC_000016.8:g.2101680G>C	NCBI36
NG_008617.1:g.29221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3489C>G MANE Select	ENSP00000262304.4:p.Phe1163Leu
ENST00000262304.8:c.3489C>G	ENSP00000262304.4:p.Phe1163Leu
ENST00000415938.7:n.310+662C>G
ENST00000423118.5:c.3489C>G	ENSP00000399501.1:p.Phe1163Leu
ENST00000468674.5:n.430+662C>G
ENST00000469241.2:n.439C>G
ENST00000483024.1:c.233+138C>G
ENST00000483731.5:n.790+662C>G
ENST00000488185.2:c.473-3320C>G
ENST00000565639.6:n.773+662C>G
ENST00000568591.5:c.2226+662C>G	ENSP00000457162.1:n.2226+662C>G
ENST00000569983.5:n.421+662C>G
NM_000296.3:c.3489C>G	NP_000287.3:p.Phe1163Leu
NM_001009944.2:c.3489C>G	NP_001009944.2:p.Phe1163Leu
XM_005255370.2:c.444C>G	XP_005255427.1:p.Phe148Leu
XM_011522525.1:c.3567C>G	XP_011520827.1:p.Phe1189Leu
XM_011522526.1:c.3567C>G	XP_011520828.1:p.Phe1189Leu
XM_011522527.1:c.3567C>G	XP_011520829.1:p.Phe1189Leu
XM_011522528.1:c.3543C>G	XP_011520830.1:p.Phe1181Leu
XM_011522529.1:c.3543C>G	XP_011520831.1:p.Phe1181Leu
XM_011522530.1:c.3513C>G	XP_011520832.1:p.Phe1171Leu
XM_011522531.1:c.3495C>G	XP_011520833.1:p.Phe1165Leu
XM_011522532.1:c.3441C>G	XP_011520834.1:p.Phe1147Leu
XM_011522533.1:c.3360C>G	XP_011520835.1:p.Phe1120Leu
XM_011522534.1:c.3303C>G	XP_011520836.1:p.Phe1101Leu
XM_011522535.1:c.1389C>G	XP_011520837.1:p.Phe463Leu
XM_011522536.1:c.3567C>G	XP_011520838.1:p.Phe1189Leu
XM_011522537.1:c.567C>G	XP_011520839.1:p.Phe189Leu
XR_932867.1:n.3582C>G
XR_932868.1:n.3582C>G
XR_932869.1:n.3582C>G
XR_932870.1:n.3582C>G
XM_005255370.3:c.444C>G	XP_005255427.1:p.Phe148Leu
XM_011522528.3:c.3543C>G	XP_011520830.1:p.Phe1181Leu
XM_011522529.2:c.3543C>G	XP_011520831.1:p.Phe1181Leu
XM_011522537.2:c.567C>G	XP_011520839.1:p.Phe189Leu
XM_024450298.1:c.3609C>G	XP_024306066.1:p.Phe1203Leu
XM_024450299.1:c.3537C>G	XP_024306067.1:p.Phe1179Leu
XM_024450300.1:c.3399C>G	XP_024306068.1:p.Phe1133Leu
XM_024450301.1:c.1485C>G	XP_024306069.1:p.Phe495Leu
NM_000296.4:c.3489C>G	NP_000287.4:p.Phe1163Leu
NM_001009944.3:c.3489C>G MANE Select	NP_001009944.3:p.Phe1163Leu