Canonical Allele Identifier: CA394371201

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106654-G-T
• MyVariant Identifiers: chr16:g.2156655G>T (hg19) ; chr16:g.2106654G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106654G>T , CM000678.2:g.2106654G>T	GRCh38
NC_000016.9:g.2156655G>T , CM000678.1:g.2156655G>T	GRCh37
NC_000016.8:g.2096656G>T	NCBI36
NG_008617.1:g.34245C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7233C>A MANE Select	ENSP00000262304.4:p.Ser2411Arg
ENST00000262304.8:c.7233C>A	ENSP00000262304.4:p.Ser2411Arg
ENST00000415938.7:n.478C>A
ENST00000423118.5:c.7233C>A	ENSP00000399501.1:p.Ser2411Arg
ENST00000483024.1:c.401C>A
ENST00000483558.5:n.292C>A
ENST00000483731.5:n.958C>A
ENST00000486339.6:n.979C>A
ENST00000487932.5:c.1920C>A	ENSP00000457132.1:p.Ser640Arg
ENST00000496574.6:n.1236C>A
ENST00000565639.6:n.941C>A
ENST00000568591.5:c.2394C>A	ENSP00000457162.1:n.2394C>A
ENST00000569983.5:n.589C>A
NM_000296.3:c.7233C>A	NP_000287.3:p.Ser2411Arg
NM_001009944.2:c.7233C>A	NP_001009944.2:p.Ser2411Arg
XM_005255370.2:c.4188C>A	XP_005255427.1:p.Ser1396Arg
XM_011522525.1:c.7311C>A	XP_011520827.1:p.Ser2437Arg
XM_011522526.1:c.7311C>A	XP_011520828.1:p.Ser2437Arg
XM_011522527.1:c.7311C>A	XP_011520829.1:p.Ser2437Arg
XM_011522528.1:c.7287C>A	XP_011520830.1:p.Ser2429Arg
XM_011522529.1:c.7287C>A	XP_011520831.1:p.Ser2429Arg
XM_011522530.1:c.7257C>A	XP_011520832.1:p.Ser2419Arg
XM_011522531.1:c.7239C>A	XP_011520833.1:p.Ser2413Arg
XM_011522532.1:c.7185C>A	XP_011520834.1:p.Ser2395Arg
XM_011522533.1:c.7104C>A	XP_011520835.1:p.Ser2368Arg
XM_011522534.1:c.7047C>A	XP_011520836.1:p.Ser2349Arg
XM_011522535.1:c.5133C>A	XP_011520837.1:p.Ser1711Arg
XM_011522536.1:c.7311C>A	XP_011520838.1:p.Ser2437Arg
XM_011522537.1:c.4311C>A	XP_011520839.1:p.Ser1437Arg
XR_932867.1:n.7326C>A
XR_932868.1:n.7326C>A
XR_932869.1:n.7326C>A
XR_932870.1:n.7326C>A
XM_005255370.3:c.4188C>A	XP_005255427.1:p.Ser1396Arg
XM_011522528.3:c.7287C>A	XP_011520830.1:p.Ser2429Arg
XM_011522529.2:c.7287C>A	XP_011520831.1:p.Ser2429Arg
XM_011522537.2:c.4311C>A	XP_011520839.1:p.Ser1437Arg
XM_024450298.1:c.7353C>A	XP_024306066.1:p.Ser2451Arg
XM_024450299.1:c.7281C>A	XP_024306067.1:p.Ser2427Arg
XM_024450300.1:c.7143C>A	XP_024306068.1:p.Ser2381Arg
XM_024450301.1:c.5229C>A	XP_024306069.1:p.Ser1743Arg
NM_000296.4:c.7233C>A	NP_000287.4:p.Ser2411Arg
NM_001009944.3:c.7233C>A MANE Select	NP_001009944.3:p.Ser2411Arg