Canonical Allele Identifier: CA394387589

Gene: PKD1

Linked Data

• gnomAD v4: 16-2114493-C-A
• MyVariant Identifiers: chr16:g.2164494C>A (hg19) ; chr16:g.2114493C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114493C>A , CM000678.2:g.2114493C>A	GRCh38
NC_000016.9:g.2164494C>A , CM000678.1:g.2164494C>A	GRCh37
NC_000016.8:g.2104495C>A	NCBI36
NG_008617.1:g.26406G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2530G>T MANE Select	ENSP00000262304.4:p.Ala844Ser
ENST00000262304.8:c.2530G>T	ENSP00000262304.4:p.Ala844Ser
ENST00000423118.5:c.2530G>T	ENSP00000399501.1:p.Ala844Ser
ENST00000488185.2:c.472+2996G>T
ENST00000568591.5:c.1461G>T	ENSP00000457162.1:n.1461G>T
NM_000296.3:c.2530G>T	NP_000287.3:p.Ala844Ser
NM_001009944.2:c.2530G>T	NP_001009944.2:p.Ala844Ser
XM_011522525.1:c.2584G>T	XP_011520827.1:p.Ala862Ser
XM_011522526.1:c.2584G>T	XP_011520828.1:p.Ala862Ser
XM_011522527.1:c.2584G>T	XP_011520829.1:p.Ala862Ser
XM_011522528.1:c.2584G>T	XP_011520830.1:p.Ala862Ser
XM_011522529.1:c.2584G>T	XP_011520831.1:p.Ala862Ser
XM_011522530.1:c.2530G>T	XP_011520832.1:p.Ala844Ser
XM_011522531.1:c.2512G>T	XP_011520833.1:p.Ala838Ser
XM_011522532.1:c.2458G>T	XP_011520834.1:p.Ala820Ser
XM_011522533.1:c.2377G>T	XP_011520835.1:p.Ala793Ser
XM_011522534.1:c.2320G>T	XP_011520836.1:p.Ala774Ser
XM_011522535.1:c.406G>T	XP_011520837.1:p.Ala136Ser
XM_011522536.1:c.2584G>T	XP_011520838.1:p.Ala862Ser
XR_932867.1:n.2599G>T
XR_932868.1:n.2599G>T
XR_932869.1:n.2599G>T
XR_932870.1:n.2599G>T
XM_005255370.3:c.-520G>T	XP_005255427.1:n.-520G>T
XM_011522528.3:c.2584G>T	XP_011520830.1:p.Ala862Ser
XM_011522529.2:c.2584G>T	XP_011520831.1:p.Ala862Ser
XM_024450298.1:c.2530G>T	XP_024306066.1:p.Ala844Ser
XM_024450299.1:c.2458G>T	XP_024306067.1:p.Ala820Ser
XM_024450300.1:c.2320G>T	XP_024306068.1:p.Ala774Ser
XM_024450301.1:c.406G>T	XP_024306069.1:p.Ala136Ser
NM_000296.4:c.2530G>T	NP_000287.4:p.Ala844Ser
NM_001009944.3:c.2530G>T MANE Select	NP_001009944.3:p.Ala844Ser