Canonical Allele Identifier: CA394371257

Gene: PKD1

Linked Data

• dbSNP Id: rs2092347126
• gnomAD v3: 16-2106667-G-A
• gnomAD v4: 16-2106667-G-A
• MyVariant Identifiers: chr16:g.2156668G>A (hg19) ; chr16:g.2106667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106667G>A , CM000678.2:g.2106667G>A	GRCh38
NC_000016.9:g.2156668G>A , CM000678.1:g.2156668G>A	GRCh37
NC_000016.8:g.2096669G>A	NCBI36
NG_008617.1:g.34232C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7220C>T MANE Select	ENSP00000262304.4:p.Ala2407Val
ENST00000262304.8:c.7220C>T	ENSP00000262304.4:p.Ala2407Val
ENST00000415938.7:n.465C>T
ENST00000423118.5:c.7220C>T	ENSP00000399501.1:p.Ala2407Val
ENST00000483024.1:c.388C>T
ENST00000483558.5:n.279C>T
ENST00000483731.5:n.945C>T
ENST00000486339.6:n.966C>T
ENST00000487932.5:c.1907C>T	ENSP00000457132.1:p.Ala636Val
ENST00000496574.6:n.1223C>T
ENST00000565639.6:n.928C>T
ENST00000568591.5:c.2381C>T	ENSP00000457162.1:n.2381C>T
ENST00000569983.5:n.576C>T
NM_000296.3:c.7220C>T	NP_000287.3:p.Ala2407Val
NM_001009944.2:c.7220C>T	NP_001009944.2:p.Ala2407Val
XM_005255370.2:c.4175C>T	XP_005255427.1:p.Ala1392Val
XM_011522525.1:c.7298C>T	XP_011520827.1:p.Ala2433Val
XM_011522526.1:c.7298C>T	XP_011520828.1:p.Ala2433Val
XM_011522527.1:c.7298C>T	XP_011520829.1:p.Ala2433Val
XM_011522528.1:c.7274C>T	XP_011520830.1:p.Ala2425Val
XM_011522529.1:c.7274C>T	XP_011520831.1:p.Ala2425Val
XM_011522530.1:c.7244C>T	XP_011520832.1:p.Ala2415Val
XM_011522531.1:c.7226C>T	XP_011520833.1:p.Ala2409Val
XM_011522532.1:c.7172C>T	XP_011520834.1:p.Ala2391Val
XM_011522533.1:c.7091C>T	XP_011520835.1:p.Ala2364Val
XM_011522534.1:c.7034C>T	XP_011520836.1:p.Ala2345Val
XM_011522535.1:c.5120C>T	XP_011520837.1:p.Ala1707Val
XM_011522536.1:c.7298C>T	XP_011520838.1:p.Ala2433Val
XM_011522537.1:c.4298C>T	XP_011520839.1:p.Ala1433Val
XR_932867.1:n.7313C>T
XR_932868.1:n.7313C>T
XR_932869.1:n.7313C>T
XR_932870.1:n.7313C>T
XM_005255370.3:c.4175C>T	XP_005255427.1:p.Ala1392Val
XM_011522528.3:c.7274C>T	XP_011520830.1:p.Ala2425Val
XM_011522529.2:c.7274C>T	XP_011520831.1:p.Ala2425Val
XM_011522537.2:c.4298C>T	XP_011520839.1:p.Ala1433Val
XM_024450298.1:c.7340C>T	XP_024306066.1:p.Ala2447Val
XM_024450299.1:c.7268C>T	XP_024306067.1:p.Ala2423Val
XM_024450300.1:c.7130C>T	XP_024306068.1:p.Ala2377Val
XM_024450301.1:c.5216C>T	XP_024306069.1:p.Ala1739Val
NM_000296.4:c.7220C>T	NP_000287.4:p.Ala2407Val
NM_001009944.3:c.7220C>T MANE Select	NP_001009944.3:p.Ala2407Val