Canonical Allele Identifier: CA394370463

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156612T>A (hg19) ; chr16:g.2106611T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106611T>A , CM000678.2:g.2106611T>A	GRCh38
NC_000016.9:g.2156612T>A , CM000678.1:g.2156612T>A	GRCh37
NC_000016.8:g.2096613T>A	NCBI36
NG_008617.1:g.34288A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7276A>T MANE Select	ENSP00000262304.4:p.Ser2426Cys
ENST00000262304.8:c.7276A>T	ENSP00000262304.4:p.Ser2426Cys
ENST00000415938.7:n.521A>T
ENST00000423118.5:c.7276A>T	ENSP00000399501.1:p.Ser2426Cys
ENST00000483024.1:c.444A>T
ENST00000483558.5:n.335A>T
ENST00000483731.5:n.1001A>T
ENST00000486339.6:n.1022A>T
ENST00000487932.5:c.1963A>T	ENSP00000457132.1:p.Ser655Cys
ENST00000496574.6:n.1279A>T
ENST00000565639.6:n.984A>T
ENST00000568591.5:c.2437A>T	ENSP00000457162.1:n.2437A>T
ENST00000569983.5:n.632A>T
NM_000296.3:c.7276A>T	NP_000287.3:p.Ser2426Cys
NM_001009944.2:c.7276A>T	NP_001009944.2:p.Ser2426Cys
XM_005255370.2:c.4231A>T	XP_005255427.1:p.Ser1411Cys
XM_011522525.1:c.7354A>T	XP_011520827.1:p.Ser2452Cys
XM_011522526.1:c.7354A>T	XP_011520828.1:p.Ser2452Cys
XM_011522527.1:c.7354A>T	XP_011520829.1:p.Ser2452Cys
XM_011522528.1:c.7330A>T	XP_011520830.1:p.Ser2444Cys
XM_011522529.1:c.7330A>T	XP_011520831.1:p.Ser2444Cys
XM_011522530.1:c.7300A>T	XP_011520832.1:p.Ser2434Cys
XM_011522531.1:c.7282A>T	XP_011520833.1:p.Ser2428Cys
XM_011522532.1:c.7228A>T	XP_011520834.1:p.Ser2410Cys
XM_011522533.1:c.7147A>T	XP_011520835.1:p.Ser2383Cys
XM_011522534.1:c.7090A>T	XP_011520836.1:p.Ser2364Cys
XM_011522535.1:c.5176A>T	XP_011520837.1:p.Ser1726Cys
XM_011522536.1:c.7354A>T	XP_011520838.1:p.Ser2452Cys
XM_011522537.1:c.4354A>T	XP_011520839.1:p.Ser1452Cys
XR_932867.1:n.7369A>T
XR_932868.1:n.7369A>T
XR_932869.1:n.7369A>T
XR_932870.1:n.7369A>T
XM_005255370.3:c.4231A>T	XP_005255427.1:p.Ser1411Cys
XM_011522528.3:c.7330A>T	XP_011520830.1:p.Ser2444Cys
XM_011522529.2:c.7330A>T	XP_011520831.1:p.Ser2444Cys
XM_011522537.2:c.4354A>T	XP_011520839.1:p.Ser1452Cys
XM_024450298.1:c.7396A>T	XP_024306066.1:p.Ser2466Cys
XM_024450299.1:c.7324A>T	XP_024306067.1:p.Ser2442Cys
XM_024450300.1:c.7186A>T	XP_024306068.1:p.Ser2396Cys
XM_024450301.1:c.5272A>T	XP_024306069.1:p.Ser1758Cys
NM_000296.4:c.7276A>T	NP_000287.4:p.Ser2426Cys
NM_001009944.3:c.7276A>T MANE Select	NP_001009944.3:p.Ser2426Cys