Canonical Allele Identifier: CA394382781

Gene: PKD1

Linked Data

• dbSNP Id: rs753833996
• gnomAD v2: 16-2161569-G-T
• gnomAD v3: 16-2111568-G-T
• gnomAD v4: 16-2111568-G-T
• MyVariant Identifiers: chr16:g.2161569G>T (hg19) ; chr16:g.2111568G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111568G>T , CM000678.2:g.2111568G>T	GRCh38
NC_000016.9:g.2161569G>T , CM000678.1:g.2161569G>T	GRCh37
NC_000016.8:g.2101570G>T	NCBI36
NG_008617.1:g.29331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3599C>A MANE Select	ENSP00000262304.4:p.Ala1200Glu
ENST00000262304.8:c.3599C>A	ENSP00000262304.4:p.Ala1200Glu
ENST00000415938.7:n.310+772C>A
ENST00000423118.5:c.3599C>A	ENSP00000399501.1:p.Ala1200Glu
ENST00000468674.5:n.430+772C>A
ENST00000469241.2:n.549C>A
ENST00000483024.1:c.233+248C>A
ENST00000483731.5:n.790+772C>A
ENST00000488185.2:c.473-3210C>A
ENST00000565639.6:n.773+772C>A
ENST00000568591.5:c.2226+772C>A	ENSP00000457162.1:n.2226+772C>A
ENST00000569983.5:n.421+772C>A
NM_000296.3:c.3599C>A	NP_000287.3:p.Ala1200Glu
NM_001009944.2:c.3599C>A	NP_001009944.2:p.Ala1200Glu
XM_005255370.2:c.554C>A	XP_005255427.1:p.Ala185Glu
XM_011522525.1:c.3677C>A	XP_011520827.1:p.Ala1226Glu
XM_011522526.1:c.3677C>A	XP_011520828.1:p.Ala1226Glu
XM_011522527.1:c.3677C>A	XP_011520829.1:p.Ala1226Glu
XM_011522528.1:c.3653C>A	XP_011520830.1:p.Ala1218Glu
XM_011522529.1:c.3653C>A	XP_011520831.1:p.Ala1218Glu
XM_011522530.1:c.3623C>A	XP_011520832.1:p.Ala1208Glu
XM_011522531.1:c.3605C>A	XP_011520833.1:p.Ala1202Glu
XM_011522532.1:c.3551C>A	XP_011520834.1:p.Ala1184Glu
XM_011522533.1:c.3470C>A	XP_011520835.1:p.Ala1157Glu
XM_011522534.1:c.3413C>A	XP_011520836.1:p.Ala1138Glu
XM_011522535.1:c.1499C>A	XP_011520837.1:p.Ala500Glu
XM_011522536.1:c.3677C>A	XP_011520838.1:p.Ala1226Glu
XM_011522537.1:c.677C>A	XP_011520839.1:p.Ala226Glu
XR_932867.1:n.3692C>A
XR_932868.1:n.3692C>A
XR_932869.1:n.3692C>A
XR_932870.1:n.3692C>A
XM_005255370.3:c.554C>A	XP_005255427.1:p.Ala185Glu
XM_011522528.3:c.3653C>A	XP_011520830.1:p.Ala1218Glu
XM_011522529.2:c.3653C>A	XP_011520831.1:p.Ala1218Glu
XM_011522537.2:c.677C>A	XP_011520839.1:p.Ala226Glu
XM_024450298.1:c.3719C>A	XP_024306066.1:p.Ala1240Glu
XM_024450299.1:c.3647C>A	XP_024306067.1:p.Ala1216Glu
XM_024450300.1:c.3509C>A	XP_024306068.1:p.Ala1170Glu
XM_024450301.1:c.1595C>A	XP_024306069.1:p.Ala532Glu
NM_000296.4:c.3599C>A	NP_000287.4:p.Ala1200Glu
NM_001009944.3:c.3599C>A MANE Select	NP_001009944.3:p.Ala1200Glu