Canonical Allele Identifier: CA394387715

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2164536C>G (hg19) ; chr16:g.2114535C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114535C>G , CM000678.2:g.2114535C>G	GRCh38
NC_000016.9:g.2164536C>G , CM000678.1:g.2164536C>G	GRCh37
NC_000016.8:g.2104537C>G	NCBI36
NG_008617.1:g.26364G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2488G>C MANE Select	ENSP00000262304.4:p.Ala830Pro
ENST00000262304.8:c.2488G>C	ENSP00000262304.4:p.Ala830Pro
ENST00000423118.5:c.2488G>C	ENSP00000399501.1:p.Ala830Pro
ENST00000488185.2:c.472+2954G>C
ENST00000568591.5:c.1419G>C	ENSP00000457162.1:n.1419G>C
NM_000296.3:c.2488G>C	NP_000287.3:p.Ala830Pro
NM_001009944.2:c.2488G>C	NP_001009944.2:p.Ala830Pro
XM_011522525.1:c.2542G>C	XP_011520827.1:p.Ala848Pro
XM_011522526.1:c.2542G>C	XP_011520828.1:p.Ala848Pro
XM_011522527.1:c.2542G>C	XP_011520829.1:p.Ala848Pro
XM_011522528.1:c.2542G>C	XP_011520830.1:p.Ala848Pro
XM_011522529.1:c.2542G>C	XP_011520831.1:p.Ala848Pro
XM_011522530.1:c.2488G>C	XP_011520832.1:p.Ala830Pro
XM_011522531.1:c.2470G>C	XP_011520833.1:p.Ala824Pro
XM_011522532.1:c.2416G>C	XP_011520834.1:p.Ala806Pro
XM_011522533.1:c.2335G>C	XP_011520835.1:p.Ala779Pro
XM_011522534.1:c.2278G>C	XP_011520836.1:p.Ala760Pro
XM_011522535.1:c.364G>C	XP_011520837.1:p.Ala122Pro
XM_011522536.1:c.2542G>C	XP_011520838.1:p.Ala848Pro
XR_932867.1:n.2557G>C
XR_932868.1:n.2557G>C
XR_932869.1:n.2557G>C
XR_932870.1:n.2557G>C
XM_005255370.3:c.-562G>C	XP_005255427.1:n.-562G>C
XM_011522528.3:c.2542G>C	XP_011520830.1:p.Ala848Pro
XM_011522529.2:c.2542G>C	XP_011520831.1:p.Ala848Pro
XM_024450298.1:c.2488G>C	XP_024306066.1:p.Ala830Pro
XM_024450299.1:c.2416G>C	XP_024306067.1:p.Ala806Pro
XM_024450300.1:c.2278G>C	XP_024306068.1:p.Ala760Pro
XM_024450301.1:c.364G>C	XP_024306069.1:p.Ala122Pro
NM_000296.4:c.2488G>C	NP_000287.4:p.Ala830Pro
NM_001009944.3:c.2488G>C MANE Select	NP_001009944.3:p.Ala830Pro