Canonical Allele Identifier: CA7831203

Gene: PKD1

Linked Data

• dbSNP Id: rs754985089
• ExAC: 16:2156642 C / A
• gnomAD v2: 16-2156642-C-A
• gnomAD v3: 16-2106641-C-A
• gnomAD v4: 16-2106641-C-A
• MyVariant Identifiers: chr16:g.2156642C>A (hg19) ; chr16:g.2106641C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106641C>A , CM000678.2:g.2106641C>A	GRCh38
NC_000016.9:g.2156642C>A , CM000678.1:g.2156642C>A	GRCh37
NC_000016.8:g.2096643C>A	NCBI36
NG_008617.1:g.34258G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7246G>T MANE Select	ENSP00000262304.4:p.Val2416Leu
ENST00000262304.8:c.7246G>T	ENSP00000262304.4:p.Val2416Leu
ENST00000415938.7:n.491G>T
ENST00000423118.5:c.7246G>T	ENSP00000399501.1:p.Val2416Leu
ENST00000483024.1:c.414G>T
ENST00000483558.5:n.305G>T
ENST00000483731.5:n.971G>T
ENST00000486339.6:n.992G>T
ENST00000487932.5:c.1933G>T	ENSP00000457132.1:p.Val645Leu
ENST00000496574.6:n.1249G>T
ENST00000565639.6:n.954G>T
ENST00000568591.5:c.2407G>T	ENSP00000457162.1:n.2407G>T
ENST00000569983.5:n.602G>T
NM_000296.3:c.7246G>T	NP_000287.3:p.Val2416Leu
NM_001009944.2:c.7246G>T	NP_001009944.2:p.Val2416Leu
XM_005255370.2:c.4201G>T	XP_005255427.1:p.Val1401Leu
XM_011522525.1:c.7324G>T	XP_011520827.1:p.Val2442Leu
XM_011522526.1:c.7324G>T	XP_011520828.1:p.Val2442Leu
XM_011522527.1:c.7324G>T	XP_011520829.1:p.Val2442Leu
XM_011522528.1:c.7300G>T	XP_011520830.1:p.Val2434Leu
XM_011522529.1:c.7300G>T	XP_011520831.1:p.Val2434Leu
XM_011522530.1:c.7270G>T	XP_011520832.1:p.Val2424Leu
XM_011522531.1:c.7252G>T	XP_011520833.1:p.Val2418Leu
XM_011522532.1:c.7198G>T	XP_011520834.1:p.Val2400Leu
XM_011522533.1:c.7117G>T	XP_011520835.1:p.Val2373Leu
XM_011522534.1:c.7060G>T	XP_011520836.1:p.Val2354Leu
XM_011522535.1:c.5146G>T	XP_011520837.1:p.Val1716Leu
XM_011522536.1:c.7324G>T	XP_011520838.1:p.Val2442Leu
XM_011522537.1:c.4324G>T	XP_011520839.1:p.Val1442Leu
XR_932867.1:n.7339G>T
XR_932868.1:n.7339G>T
XR_932869.1:n.7339G>T
XR_932870.1:n.7339G>T
XM_005255370.3:c.4201G>T	XP_005255427.1:p.Val1401Leu
XM_011522528.3:c.7300G>T	XP_011520830.1:p.Val2434Leu
XM_011522529.2:c.7300G>T	XP_011520831.1:p.Val2434Leu
XM_011522537.2:c.4324G>T	XP_011520839.1:p.Val1442Leu
XM_024450298.1:c.7366G>T	XP_024306066.1:p.Val2456Leu
XM_024450299.1:c.7294G>T	XP_024306067.1:p.Val2432Leu
XM_024450300.1:c.7156G>T	XP_024306068.1:p.Val2386Leu
XM_024450301.1:c.5242G>T	XP_024306069.1:p.Val1748Leu
NM_000296.4:c.7246G>T	NP_000287.4:p.Val2416Leu
NM_001009944.3:c.7246G>T MANE Select	NP_001009944.3:p.Val2416Leu