Canonical Allele Identifier: CA394370310

Gene: PKD1

Linked Data

• dbSNP Id: rs2092343962
• gnomAD v4: 16-2106580-C-T
• MyVariant Identifiers: chr16:g.2156581C>T (hg19) ; chr16:g.2106580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106580C>T , CM000678.2:g.2106580C>T	GRCh38
NC_000016.9:g.2156581C>T , CM000678.1:g.2156581C>T	GRCh37
NC_000016.8:g.2096582C>T	NCBI36
NG_008617.1:g.34319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7307G>A MANE Select	ENSP00000262304.4:p.Gly2436Asp
ENST00000262304.8:c.7307G>A	ENSP00000262304.4:p.Gly2436Asp
ENST00000415938.7:n.552G>A
ENST00000423118.5:c.7307G>A	ENSP00000399501.1:p.Gly2436Asp
ENST00000483558.5:n.366G>A
ENST00000483731.5:n.1032G>A
ENST00000486339.6:n.1053G>A
ENST00000487932.5:c.1994G>A	ENSP00000457132.1:p.Gly665Asp
ENST00000496574.6:n.1310G>A
ENST00000565639.6:n.1015G>A
ENST00000568591.5:c.2468G>A	ENSP00000457162.1:n.2468G>A
ENST00000569983.5:n.663G>A
NM_000296.3:c.7307G>A	NP_000287.3:p.Gly2436Asp
NM_001009944.2:c.7307G>A	NP_001009944.2:p.Gly2436Asp
XM_005255370.2:c.4262G>A	XP_005255427.1:p.Gly1421Asp
XM_011522525.1:c.7385G>A	XP_011520827.1:p.Gly2462Asp
XM_011522526.1:c.7385G>A	XP_011520828.1:p.Gly2462Asp
XM_011522527.1:c.7385G>A	XP_011520829.1:p.Gly2462Asp
XM_011522528.1:c.7361G>A	XP_011520830.1:p.Gly2454Asp
XM_011522529.1:c.7361G>A	XP_011520831.1:p.Gly2454Asp
XM_011522530.1:c.7331G>A	XP_011520832.1:p.Gly2444Asp
XM_011522531.1:c.7313G>A	XP_011520833.1:p.Gly2438Asp
XM_011522532.1:c.7259G>A	XP_011520834.1:p.Gly2420Asp
XM_011522533.1:c.7178G>A	XP_011520835.1:p.Gly2393Asp
XM_011522534.1:c.7121G>A	XP_011520836.1:p.Gly2374Asp
XM_011522535.1:c.5207G>A	XP_011520837.1:p.Gly1736Asp
XM_011522536.1:c.7385G>A	XP_011520838.1:p.Gly2462Asp
XM_011522537.1:c.4385G>A	XP_011520839.1:p.Gly1462Asp
XR_932867.1:n.7400G>A
XR_932868.1:n.7400G>A
XR_932869.1:n.7400G>A
XR_932870.1:n.7400G>A
XM_005255370.3:c.4262G>A	XP_005255427.1:p.Gly1421Asp
XM_011522528.3:c.7361G>A	XP_011520830.1:p.Gly2454Asp
XM_011522529.2:c.7361G>A	XP_011520831.1:p.Gly2454Asp
XM_011522537.2:c.4385G>A	XP_011520839.1:p.Gly1462Asp
XM_024450298.1:c.7427G>A	XP_024306066.1:p.Gly2476Asp
XM_024450299.1:c.7355G>A	XP_024306067.1:p.Gly2452Asp
XM_024450300.1:c.7217G>A	XP_024306068.1:p.Gly2406Asp
XM_024450301.1:c.5303G>A	XP_024306069.1:p.Gly1768Asp
NM_000296.4:c.7307G>A	NP_000287.4:p.Gly2436Asp
NM_001009944.3:c.7307G>A MANE Select	NP_001009944.3:p.Gly2436Asp