Canonical Allele Identifier: CA394382737

Gene: PKD1

Linked Data

• dbSNP Id: rs1384713748
• gnomAD v2: 16-2161543-A-G
• gnomAD v4: 16-2111542-A-G
• MyVariant Identifiers: chr16:g.2161543A>G (hg19) ; chr16:g.2111542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111542A>G , CM000678.2:g.2111542A>G	GRCh38
NC_000016.9:g.2161543A>G , CM000678.1:g.2161543A>G	GRCh37
NC_000016.8:g.2101544A>G	NCBI36
NG_008617.1:g.29357T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3625T>C MANE Select	ENSP00000262304.4:p.Phe1209Leu
ENST00000262304.8:c.3625T>C	ENSP00000262304.4:p.Phe1209Leu
ENST00000415938.7:n.310+798T>C
ENST00000423118.5:c.3625T>C	ENSP00000399501.1:p.Phe1209Leu
ENST00000468674.5:n.430+798T>C
ENST00000469241.2:n.575T>C
ENST00000483024.1:c.233+274T>C
ENST00000483731.5:n.790+798T>C
ENST00000488185.2:c.473-3184T>C
ENST00000565639.6:n.773+798T>C
ENST00000568591.5:c.2226+798T>C	ENSP00000457162.1:n.2226+798T>C
ENST00000569983.5:n.421+798T>C
NM_000296.3:c.3625T>C	NP_000287.3:p.Phe1209Leu
NM_001009944.2:c.3625T>C	NP_001009944.2:p.Phe1209Leu
XM_005255370.2:c.580T>C	XP_005255427.1:p.Phe194Leu
XM_011522525.1:c.3703T>C	XP_011520827.1:p.Phe1235Leu
XM_011522526.1:c.3703T>C	XP_011520828.1:p.Phe1235Leu
XM_011522527.1:c.3703T>C	XP_011520829.1:p.Phe1235Leu
XM_011522528.1:c.3679T>C	XP_011520830.1:p.Phe1227Leu
XM_011522529.1:c.3679T>C	XP_011520831.1:p.Phe1227Leu
XM_011522530.1:c.3649T>C	XP_011520832.1:p.Phe1217Leu
XM_011522531.1:c.3631T>C	XP_011520833.1:p.Phe1211Leu
XM_011522532.1:c.3577T>C	XP_011520834.1:p.Phe1193Leu
XM_011522533.1:c.3496T>C	XP_011520835.1:p.Phe1166Leu
XM_011522534.1:c.3439T>C	XP_011520836.1:p.Phe1147Leu
XM_011522535.1:c.1525T>C	XP_011520837.1:p.Phe509Leu
XM_011522536.1:c.3703T>C	XP_011520838.1:p.Phe1235Leu
XM_011522537.1:c.703T>C	XP_011520839.1:p.Phe235Leu
XR_932867.1:n.3718T>C
XR_932868.1:n.3718T>C
XR_932869.1:n.3718T>C
XR_932870.1:n.3718T>C
XM_005255370.3:c.580T>C	XP_005255427.1:p.Phe194Leu
XM_011522528.3:c.3679T>C	XP_011520830.1:p.Phe1227Leu
XM_011522529.2:c.3679T>C	XP_011520831.1:p.Phe1227Leu
XM_011522537.2:c.703T>C	XP_011520839.1:p.Phe235Leu
XM_024450298.1:c.3745T>C	XP_024306066.1:p.Phe1249Leu
XM_024450299.1:c.3673T>C	XP_024306067.1:p.Phe1225Leu
XM_024450300.1:c.3535T>C	XP_024306068.1:p.Phe1179Leu
XM_024450301.1:c.1621T>C	XP_024306069.1:p.Phe541Leu
NM_000296.4:c.3625T>C	NP_000287.4:p.Phe1209Leu
NM_001009944.3:c.3625T>C MANE Select	NP_001009944.3:p.Phe1209Leu