Canonical Allele Identifier: CA394370402

Gene: PKD1

Linked Data

• ClinVar Variation Id: 917865
• ClinVar RCV Id: RCV001175139
• dbSNP Id: rs1430979320
• gnomAD v3: 16-2106601-A-C
• gnomAD v4: 16-2106601-A-C
• MyVariant Identifiers: chr16:g.2156602A>C (hg19) ; chr16:g.2106601A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106601A>C , CM000678.2:g.2106601A>C	GRCh38
NC_000016.9:g.2156602A>C , CM000678.1:g.2156602A>C	GRCh37
NC_000016.8:g.2096603A>C	NCBI36
NG_008617.1:g.34298T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.7286T>G MANE Select	ENSP00000262304.4:p.Met2429Arg
ENST00000262304.8:c.7286T>G	ENSP00000262304.4:p.Met2429Arg
ENST00000415938.7:n.531T>G
ENST00000423118.5:c.7286T>G	ENSP00000399501.1:p.Met2429Arg
ENST00000483024.1:c.454T>G
ENST00000483558.5:n.345T>G
ENST00000483731.5:n.1011T>G
ENST00000486339.6:n.1032T>G
ENST00000487932.5:c.1973T>G	ENSP00000457132.1:p.Met658Arg
ENST00000496574.6:n.1289T>G
ENST00000565639.6:n.994T>G
ENST00000568591.5:c.2447T>G	ENSP00000457162.1:n.2447T>G
ENST00000569983.5:n.642T>G
NM_000296.3:c.7286T>G	NP_000287.3:p.Met2429Arg
NM_001009944.2:c.7286T>G	NP_001009944.2:p.Met2429Arg
XM_005255370.2:c.4241T>G	XP_005255427.1:p.Met1414Arg
XM_011522525.1:c.7364T>G	XP_011520827.1:p.Met2455Arg
XM_011522526.1:c.7364T>G	XP_011520828.1:p.Met2455Arg
XM_011522527.1:c.7364T>G	XP_011520829.1:p.Met2455Arg
XM_011522528.1:c.7340T>G	XP_011520830.1:p.Met2447Arg
XM_011522529.1:c.7340T>G	XP_011520831.1:p.Met2447Arg
XM_011522530.1:c.7310T>G	XP_011520832.1:p.Met2437Arg
XM_011522531.1:c.7292T>G	XP_011520833.1:p.Met2431Arg
XM_011522532.1:c.7238T>G	XP_011520834.1:p.Met2413Arg
XM_011522533.1:c.7157T>G	XP_011520835.1:p.Met2386Arg
XM_011522534.1:c.7100T>G	XP_011520836.1:p.Met2367Arg
XM_011522535.1:c.5186T>G	XP_011520837.1:p.Met1729Arg
XM_011522536.1:c.7364T>G	XP_011520838.1:p.Met2455Arg
XM_011522537.1:c.4364T>G	XP_011520839.1:p.Met1455Arg
XR_932867.1:n.7379T>G
XR_932868.1:n.7379T>G
XR_932869.1:n.7379T>G
XR_932870.1:n.7379T>G
XM_005255370.3:c.4241T>G	XP_005255427.1:p.Met1414Arg
XM_011522528.3:c.7340T>G	XP_011520830.1:p.Met2447Arg
XM_011522529.2:c.7340T>G	XP_011520831.1:p.Met2447Arg
XM_011522537.2:c.4364T>G	XP_011520839.1:p.Met1455Arg
XM_024450298.1:c.7406T>G	XP_024306066.1:p.Met2469Arg
XM_024450299.1:c.7334T>G	XP_024306067.1:p.Met2445Arg
XM_024450300.1:c.7196T>G	XP_024306068.1:p.Met2399Arg
XM_024450301.1:c.5282T>G	XP_024306069.1:p.Met1761Arg
NM_000296.4:c.7286T>G	NP_000287.4:p.Met2429Arg
NM_001009944.3:c.7286T>G MANE Select	NP_001009944.3:p.Met2429Arg