Canonical Allele Identifier: CA394370359

Gene: PKD1

Linked Data

• dbSNP Id: rs771746062
• gnomAD v3: 16-2106590-G-C
• gnomAD v4: 16-2106590-G-C
• MyVariant Identifiers: chr16:g.2156591G>C (hg19) ; chr16:g.2106590G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106590G>C , CM000678.2:g.2106590G>C	GRCh38
NC_000016.9:g.2156591G>C , CM000678.1:g.2156591G>C	GRCh37
NC_000016.8:g.2096592G>C	NCBI36
NG_008617.1:g.34309C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7297C>G MANE Select	ENSP00000262304.4:p.Leu2433Val
ENST00000262304.8:c.7297C>G	ENSP00000262304.4:p.Leu2433Val
ENST00000415938.7:n.542C>G
ENST00000423118.5:c.7297C>G	ENSP00000399501.1:p.Leu2433Val
ENST00000483024.1:c.465C>G
ENST00000483558.5:n.356C>G
ENST00000483731.5:n.1022C>G
ENST00000486339.6:n.1043C>G
ENST00000487932.5:c.1984C>G	ENSP00000457132.1:p.Leu662Val
ENST00000496574.6:n.1300C>G
ENST00000565639.6:n.1005C>G
ENST00000568591.5:c.2458C>G	ENSP00000457162.1:n.2458C>G
ENST00000569983.5:n.653C>G
NM_000296.3:c.7297C>G	NP_000287.3:p.Leu2433Val
NM_001009944.2:c.7297C>G	NP_001009944.2:p.Leu2433Val
XM_005255370.2:c.4252C>G	XP_005255427.1:p.Leu1418Val
XM_011522525.1:c.7375C>G	XP_011520827.1:p.Leu2459Val
XM_011522526.1:c.7375C>G	XP_011520828.1:p.Leu2459Val
XM_011522527.1:c.7375C>G	XP_011520829.1:p.Leu2459Val
XM_011522528.1:c.7351C>G	XP_011520830.1:p.Leu2451Val
XM_011522529.1:c.7351C>G	XP_011520831.1:p.Leu2451Val
XM_011522530.1:c.7321C>G	XP_011520832.1:p.Leu2441Val
XM_011522531.1:c.7303C>G	XP_011520833.1:p.Leu2435Val
XM_011522532.1:c.7249C>G	XP_011520834.1:p.Leu2417Val
XM_011522533.1:c.7168C>G	XP_011520835.1:p.Leu2390Val
XM_011522534.1:c.7111C>G	XP_011520836.1:p.Leu2371Val
XM_011522535.1:c.5197C>G	XP_011520837.1:p.Leu1733Val
XM_011522536.1:c.7375C>G	XP_011520838.1:p.Leu2459Val
XM_011522537.1:c.4375C>G	XP_011520839.1:p.Leu1459Val
XR_932867.1:n.7390C>G
XR_932868.1:n.7390C>G
XR_932869.1:n.7390C>G
XR_932870.1:n.7390C>G
XM_005255370.3:c.4252C>G	XP_005255427.1:p.Leu1418Val
XM_011522528.3:c.7351C>G	XP_011520830.1:p.Leu2451Val
XM_011522529.2:c.7351C>G	XP_011520831.1:p.Leu2451Val
XM_011522537.2:c.4375C>G	XP_011520839.1:p.Leu1459Val
XM_024450298.1:c.7417C>G	XP_024306066.1:p.Leu2473Val
XM_024450299.1:c.7345C>G	XP_024306067.1:p.Leu2449Val
XM_024450300.1:c.7207C>G	XP_024306068.1:p.Leu2403Val
XM_024450301.1:c.5293C>G	XP_024306069.1:p.Leu1765Val
NM_000296.4:c.7297C>G	NP_000287.4:p.Leu2433Val
NM_001009944.3:c.7297C>G MANE Select	NP_001009944.3:p.Leu2433Val