Canonical Allele Identifier: CA7829695

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2097499C>G , CM000678.2:g.2097499C>G	GRCh38
NC_000016.9:g.2147500C>G , CM000678.1:g.2147500C>G	GRCh37
NC_000016.8:g.2087501C>G	NCBI36
NG_008617.1:g.45722G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10225G>C MANE Select	ENSP00000262304.4:p.Val3409Leu
ENST00000262304.8:c.10225G>C	ENSP00000262304.4:p.Val3409Leu
ENST00000423118.5:c.10222G>C	ENSP00000399501.1:p.Val3408Leu
ENST00000487932.5:c.4787G>C	ENSP00000457132.1:n.4787G>C
NM_000296.3:c.10222G>C	NP_000287.3:p.Val3408Leu
NM_001009944.2:c.10225G>C	NP_001009944.2:p.Val3409Leu
XM_005255370.2:c.7180G>C	XP_005255427.1:p.Val2394Leu
XM_011522525.1:c.10303G>C	XP_011520827.1:p.Val3435Leu
XM_011522526.1:c.10300G>C	XP_011520828.1:p.Val3434Leu
XM_011522527.1:c.10285G>C	XP_011520829.1:p.Val3429Leu
XM_011522528.1:c.10279G>C	XP_011520830.1:p.Val3427Leu
XM_011522529.1:c.10276G>C	XP_011520831.1:p.Val3426Leu
XM_011522530.1:c.10249G>C	XP_011520832.1:p.Val3417Leu
XM_011522531.1:c.10231G>C	XP_011520833.1:p.Val3411Leu
XM_011522532.1:c.10177G>C	XP_011520834.1:p.Val3393Leu
XM_011522533.1:c.10096G>C	XP_011520835.1:p.Val3366Leu
XM_011522534.1:c.10039G>C	XP_011520836.1:p.Val3347Leu
XM_011522535.1:c.8125G>C	XP_011520837.1:p.Val2709Leu
XM_011522537.1:c.7303G>C	XP_011520839.1:p.Val2435Leu
XR_932867.1:n.10318G>C
XR_932868.1:n.10318G>C
XR_932869.1:n.10318G>C
XR_932870.1:n.10318G>C
XM_005255370.3:c.7180G>C	XP_005255427.1:p.Val2394Leu
XM_011522528.3:c.10279G>C	XP_011520830.1:p.Val3427Leu
XM_011522529.2:c.10276G>C	XP_011520831.1:p.Val3426Leu
XM_011522537.2:c.7303G>C	XP_011520839.1:p.Val2435Leu
XM_024450298.1:c.10345G>C	XP_024306066.1:p.Val3449Leu
XM_024450299.1:c.10273G>C	XP_024306067.1:p.Val3425Leu
XM_024450300.1:c.10135G>C	XP_024306068.1:p.Val3379Leu
XM_024450301.1:c.8221G>C	XP_024306069.1:p.Val2741Leu
NM_000296.4:c.10222G>C	NP_000287.4:p.Val3408Leu
NM_001009944.3:c.10225G>C MANE Select	NP_001009944.3:p.Val3409Leu