Canonical Allele Identifier: CA394370503

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156618T>C (hg19) ; chr16:g.2106617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106617T>C , CM000678.2:g.2106617T>C	GRCh38
NC_000016.9:g.2156618T>C , CM000678.1:g.2156618T>C	GRCh37
NC_000016.8:g.2096619T>C	NCBI36
NG_008617.1:g.34282A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7270A>G MANE Select	ENSP00000262304.4:p.Thr2424Ala
ENST00000262304.8:c.7270A>G	ENSP00000262304.4:p.Thr2424Ala
ENST00000415938.7:n.515A>G
ENST00000423118.5:c.7270A>G	ENSP00000399501.1:p.Thr2424Ala
ENST00000483024.1:c.438A>G
ENST00000483558.5:n.329A>G
ENST00000483731.5:n.995A>G
ENST00000486339.6:n.1016A>G
ENST00000487932.5:c.1957A>G	ENSP00000457132.1:p.Thr653Ala
ENST00000496574.6:n.1273A>G
ENST00000565639.6:n.978A>G
ENST00000568591.5:c.2431A>G	ENSP00000457162.1:n.2431A>G
ENST00000569983.5:n.626A>G
NM_000296.3:c.7270A>G	NP_000287.3:p.Thr2424Ala
NM_001009944.2:c.7270A>G	NP_001009944.2:p.Thr2424Ala
XM_005255370.2:c.4225A>G	XP_005255427.1:p.Thr1409Ala
XM_011522525.1:c.7348A>G	XP_011520827.1:p.Thr2450Ala
XM_011522526.1:c.7348A>G	XP_011520828.1:p.Thr2450Ala
XM_011522527.1:c.7348A>G	XP_011520829.1:p.Thr2450Ala
XM_011522528.1:c.7324A>G	XP_011520830.1:p.Thr2442Ala
XM_011522529.1:c.7324A>G	XP_011520831.1:p.Thr2442Ala
XM_011522530.1:c.7294A>G	XP_011520832.1:p.Thr2432Ala
XM_011522531.1:c.7276A>G	XP_011520833.1:p.Thr2426Ala
XM_011522532.1:c.7222A>G	XP_011520834.1:p.Thr2408Ala
XM_011522533.1:c.7141A>G	XP_011520835.1:p.Thr2381Ala
XM_011522534.1:c.7084A>G	XP_011520836.1:p.Thr2362Ala
XM_011522535.1:c.5170A>G	XP_011520837.1:p.Thr1724Ala
XM_011522536.1:c.7348A>G	XP_011520838.1:p.Thr2450Ala
XM_011522537.1:c.4348A>G	XP_011520839.1:p.Thr1450Ala
XR_932867.1:n.7363A>G
XR_932868.1:n.7363A>G
XR_932869.1:n.7363A>G
XR_932870.1:n.7363A>G
XM_005255370.3:c.4225A>G	XP_005255427.1:p.Thr1409Ala
XM_011522528.3:c.7324A>G	XP_011520830.1:p.Thr2442Ala
XM_011522529.2:c.7324A>G	XP_011520831.1:p.Thr2442Ala
XM_011522537.2:c.4348A>G	XP_011520839.1:p.Thr1450Ala
XM_024450298.1:c.7390A>G	XP_024306066.1:p.Thr2464Ala
XM_024450299.1:c.7318A>G	XP_024306067.1:p.Thr2440Ala
XM_024450300.1:c.7180A>G	XP_024306068.1:p.Thr2394Ala
XM_024450301.1:c.5266A>G	XP_024306069.1:p.Thr1756Ala
NM_000296.4:c.7270A>G	NP_000287.4:p.Thr2424Ala
NM_001009944.3:c.7270A>G MANE Select	NP_001009944.3:p.Thr2424Ala