Canonical Allele Identifier: CA394370237

Gene: PKD1

Linked Data

• dbSNP Id: rs376618983
• gnomAD v2: 16-2156567-C-A
• gnomAD v3: 16-2106566-C-A
• gnomAD v4: 16-2106566-C-A
• MyVariant Identifiers: chr16:g.2156567C>A (hg19) ; chr16:g.2106566C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106566C>A , CM000678.2:g.2106566C>A	GRCh38
NC_000016.9:g.2156567C>A , CM000678.1:g.2156567C>A	GRCh37
NC_000016.8:g.2096568C>A	NCBI36
NG_008617.1:g.34333G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7321G>T MANE Select	ENSP00000262304.4:p.Gly2441Cys
ENST00000262304.8:c.7321G>T	ENSP00000262304.4:p.Gly2441Cys
ENST00000415938.7:n.566G>T
ENST00000423118.5:c.7321G>T	ENSP00000399501.1:p.Gly2441Cys
ENST00000483558.5:n.380G>T
ENST00000483731.5:n.1046G>T
ENST00000486339.6:n.1067G>T
ENST00000487932.5:c.2008G>T	ENSP00000457132.1:p.Gly670Cys
ENST00000496574.6:n.1324G>T
ENST00000565639.6:n.1029G>T
ENST00000568591.5:c.2482G>T	ENSP00000457162.1:n.2482G>T
ENST00000569983.5:n.677G>T
NM_000296.3:c.7321G>T	NP_000287.3:p.Gly2441Cys
NM_001009944.2:c.7321G>T	NP_001009944.2:p.Gly2441Cys
XM_005255370.2:c.4276G>T	XP_005255427.1:p.Gly1426Cys
XM_011522525.1:c.7399G>T	XP_011520827.1:p.Gly2467Cys
XM_011522526.1:c.7399G>T	XP_011520828.1:p.Gly2467Cys
XM_011522527.1:c.7399G>T	XP_011520829.1:p.Gly2467Cys
XM_011522528.1:c.7375G>T	XP_011520830.1:p.Gly2459Cys
XM_011522529.1:c.7375G>T	XP_011520831.1:p.Gly2459Cys
XM_011522530.1:c.7345G>T	XP_011520832.1:p.Gly2449Cys
XM_011522531.1:c.7327G>T	XP_011520833.1:p.Gly2443Cys
XM_011522532.1:c.7273G>T	XP_011520834.1:p.Gly2425Cys
XM_011522533.1:c.7192G>T	XP_011520835.1:p.Gly2398Cys
XM_011522534.1:c.7135G>T	XP_011520836.1:p.Gly2379Cys
XM_011522535.1:c.5221G>T	XP_011520837.1:p.Gly1741Cys
XM_011522536.1:c.7399G>T	XP_011520838.1:p.Gly2467Cys
XM_011522537.1:c.4399G>T	XP_011520839.1:p.Gly1467Cys
XR_932867.1:n.7414G>T
XR_932868.1:n.7414G>T
XR_932869.1:n.7414G>T
XR_932870.1:n.7414G>T
XM_005255370.3:c.4276G>T	XP_005255427.1:p.Gly1426Cys
XM_011522528.3:c.7375G>T	XP_011520830.1:p.Gly2459Cys
XM_011522529.2:c.7375G>T	XP_011520831.1:p.Gly2459Cys
XM_011522537.2:c.4399G>T	XP_011520839.1:p.Gly1467Cys
XM_024450298.1:c.7441G>T	XP_024306066.1:p.Gly2481Cys
XM_024450299.1:c.7369G>T	XP_024306067.1:p.Gly2457Cys
XM_024450300.1:c.7231G>T	XP_024306068.1:p.Gly2411Cys
XM_024450301.1:c.5317G>T	XP_024306069.1:p.Gly1773Cys
NM_000296.4:c.7321G>T	NP_000287.4:p.Gly2441Cys
NM_001009944.3:c.7321G>T MANE Select	NP_001009944.3:p.Gly2441Cys