Canonical Allele Identifier: CA394387550

Gene: PKD1

Linked Data

• gnomAD v4: 16-2114480-T-C
• MyVariant Identifiers: chr16:g.2164481T>C (hg19) ; chr16:g.2114480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114480T>C , CM000678.2:g.2114480T>C	GRCh38
NC_000016.9:g.2164481T>C , CM000678.1:g.2164481T>C	GRCh37
NC_000016.8:g.2104482T>C	NCBI36
NG_008617.1:g.26419A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2543A>G MANE Select	ENSP00000262304.4:p.Gln848Arg
ENST00000262304.8:c.2543A>G	ENSP00000262304.4:p.Gln848Arg
ENST00000423118.5:c.2543A>G	ENSP00000399501.1:p.Gln848Arg
ENST00000488185.2:c.472+3009A>G
ENST00000565639.6:n.2A>G
ENST00000568591.5:c.1474A>G	ENSP00000457162.1:n.1474A>G
NM_000296.3:c.2543A>G	NP_000287.3:p.Gln848Arg
NM_001009944.2:c.2543A>G	NP_001009944.2:p.Gln848Arg
XM_011522525.1:c.2597A>G	XP_011520827.1:p.Gln866Arg
XM_011522526.1:c.2597A>G	XP_011520828.1:p.Gln866Arg
XM_011522527.1:c.2597A>G	XP_011520829.1:p.Gln866Arg
XM_011522528.1:c.2597A>G	XP_011520830.1:p.Gln866Arg
XM_011522529.1:c.2597A>G	XP_011520831.1:p.Gln866Arg
XM_011522530.1:c.2543A>G	XP_011520832.1:p.Gln848Arg
XM_011522531.1:c.2525A>G	XP_011520833.1:p.Gln842Arg
XM_011522532.1:c.2471A>G	XP_011520834.1:p.Gln824Arg
XM_011522533.1:c.2390A>G	XP_011520835.1:p.Gln797Arg
XM_011522534.1:c.2333A>G	XP_011520836.1:p.Gln778Arg
XM_011522535.1:c.419A>G	XP_011520837.1:p.Gln140Arg
XM_011522536.1:c.2597A>G	XP_011520838.1:p.Gln866Arg
XR_932867.1:n.2612A>G
XR_932868.1:n.2612A>G
XR_932869.1:n.2612A>G
XR_932870.1:n.2612A>G
XM_005255370.3:c.-507A>G	XP_005255427.1:n.-507A>G
XM_011522528.3:c.2597A>G	XP_011520830.1:p.Gln866Arg
XM_011522529.2:c.2597A>G	XP_011520831.1:p.Gln866Arg
XM_024450298.1:c.2543A>G	XP_024306066.1:p.Gln848Arg
XM_024450299.1:c.2471A>G	XP_024306067.1:p.Gln824Arg
XM_024450300.1:c.2333A>G	XP_024306068.1:p.Gln778Arg
XM_024450301.1:c.419A>G	XP_024306069.1:p.Gln140Arg
NM_000296.4:c.2543A>G	NP_000287.4:p.Gln848Arg
NM_001009944.3:c.2543A>G MANE Select	NP_001009944.3:p.Gln848Arg