Canonical Allele Identifier: CA394370501

Gene: PKD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7270A>T MANE Select	ENSP00000262304.4:p.Thr2424Ser
ENST00000262304.8:c.7270A>T	ENSP00000262304.4:p.Thr2424Ser
ENST00000415938.7:n.515A>T
ENST00000423118.5:c.7270A>T	ENSP00000399501.1:p.Thr2424Ser
ENST00000483024.1:c.438A>T
ENST00000483558.5:n.329A>T
ENST00000483731.5:n.995A>T
ENST00000486339.6:n.1016A>T
ENST00000487932.5:c.1957A>T	ENSP00000457132.1:p.Thr653Ser
ENST00000496574.6:n.1273A>T
ENST00000565639.6:n.978A>T
ENST00000568591.5:c.2431A>T	ENSP00000457162.1:n.2431A>T
ENST00000569983.5:n.626A>T
NM_000296.3:c.7270A>T	NP_000287.3:p.Thr2424Ser
NM_001009944.2:c.7270A>T	NP_001009944.2:p.Thr2424Ser
XM_005255370.2:c.4225A>T	XP_005255427.1:p.Thr1409Ser
XM_011522525.1:c.7348A>T	XP_011520827.1:p.Thr2450Ser
XM_011522526.1:c.7348A>T	XP_011520828.1:p.Thr2450Ser
XM_011522527.1:c.7348A>T	XP_011520829.1:p.Thr2450Ser
XM_011522528.1:c.7324A>T	XP_011520830.1:p.Thr2442Ser
XM_011522529.1:c.7324A>T	XP_011520831.1:p.Thr2442Ser
XM_011522530.1:c.7294A>T	XP_011520832.1:p.Thr2432Ser
XM_011522531.1:c.7276A>T	XP_011520833.1:p.Thr2426Ser
XM_011522532.1:c.7222A>T	XP_011520834.1:p.Thr2408Ser
XM_011522533.1:c.7141A>T	XP_011520835.1:p.Thr2381Ser
XM_011522534.1:c.7084A>T	XP_011520836.1:p.Thr2362Ser
XM_011522535.1:c.5170A>T	XP_011520837.1:p.Thr1724Ser
XM_011522536.1:c.7348A>T	XP_011520838.1:p.Thr2450Ser
XM_011522537.1:c.4348A>T	XP_011520839.1:p.Thr1450Ser
XR_932867.1:n.7363A>T
XR_932868.1:n.7363A>T
XR_932869.1:n.7363A>T
XR_932870.1:n.7363A>T
XM_005255370.3:c.4225A>T	XP_005255427.1:p.Thr1409Ser
XM_011522528.3:c.7324A>T	XP_011520830.1:p.Thr2442Ser
XM_011522529.2:c.7324A>T	XP_011520831.1:p.Thr2442Ser
XM_011522537.2:c.4348A>T	XP_011520839.1:p.Thr1450Ser
XM_024450298.1:c.7390A>T	XP_024306066.1:p.Thr2464Ser
XM_024450299.1:c.7318A>T	XP_024306067.1:p.Thr2440Ser
XM_024450300.1:c.7180A>T	XP_024306068.1:p.Thr2394Ser
XM_024450301.1:c.5266A>T	XP_024306069.1:p.Thr1756Ser
NM_000296.4:c.7270A>T	NP_000287.4:p.Thr2424Ser
NM_001009944.3:c.7270A>T MANE Select	NP_001009944.3:p.Thr2424Ser