Canonical Allele Identifier: CA493046315

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2153864G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103863G>T , CM000678.2:g.2103863G>T	GRCh38
NC_000016.9:g.2153864G>T , CM000678.1:g.2153864G>T	GRCh37
NC_000016.8:g.2093865G>T	NCBI36
NG_008617.1:g.39358C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.8194C>A MANE Select	ENSP00000262304.4:p.Arg2732=
ENST00000262304.8:c.8194C>A	ENSP00000262304.4:p.Arg2732=
ENST00000415938.7:n.1439C>A
ENST00000423118.5:c.8194C>A	ENSP00000399501.1:p.Arg2732=
ENST00000483731.5:n.1919C>A
ENST00000486339.6:n.2330C>A
ENST00000487932.5:c.2881C>A	ENSP00000457132.1:p.Arg961=
ENST00000496574.6:n.2430C>A
ENST00000561991.5:n.716C>A
ENST00000565639.6:n.1902C>A
ENST00000567946.1:c.255C>A
NM_000296.3:c.8194C>A	NP_000287.3:p.Arg2732=
NM_001009944.2:c.8194C>A	NP_001009944.2:p.Arg2732=
XM_005255370.2:c.5149C>A	XP_005255427.1:p.Arg1717=
XM_011522525.1:c.8272C>A	XP_011520827.1:p.Arg2758=
XM_011522526.1:c.8272C>A	XP_011520828.1:p.Arg2758=
XM_011522527.1:c.8272C>A	XP_011520829.1:p.Arg2758=
XM_011522528.1:c.8248C>A	XP_011520830.1:p.Arg2750=
XM_011522529.1:c.8248C>A	XP_011520831.1:p.Arg2750=
XM_011522530.1:c.8218C>A	XP_011520832.1:p.Arg2740=
XM_011522531.1:c.8200C>A	XP_011520833.1:p.Arg2734=
XM_011522532.1:c.8146C>A	XP_011520834.1:p.Arg2716=
XM_011522533.1:c.8065C>A	XP_011520835.1:p.Arg2689=
XM_011522534.1:c.8008C>A	XP_011520836.1:p.Arg2670=
XM_011522535.1:c.6094C>A	XP_011520837.1:p.Arg2032=
XM_011522536.1:c.8272C>A	XP_011520838.1:p.Arg2758=
XM_011522537.1:c.5272C>A	XP_011520839.1:p.Arg1758=
XR_932867.1:n.8287C>A
XR_932868.1:n.8287C>A
XR_932869.1:n.8287C>A
XR_932870.1:n.8287C>A
XM_005255370.3:c.5149C>A	XP_005255427.1:p.Arg1717=
XM_011522528.3:c.8248C>A	XP_011520830.1:p.Arg2750=
XM_011522529.2:c.8248C>A	XP_011520831.1:p.Arg2750=
XM_011522537.2:c.5272C>A	XP_011520839.1:p.Arg1758=
XM_024450298.1:c.8314C>A	XP_024306066.1:p.Arg2772=
XM_024450299.1:c.8242C>A	XP_024306067.1:p.Arg2748=
XM_024450300.1:c.8104C>A	XP_024306068.1:p.Arg2702=
XM_024450301.1:c.6190C>A	XP_024306069.1:p.Arg2064=
NM_000296.4:c.8194C>A	NP_000287.4:p.Arg2732=
NM_001009944.3:c.8194C>A MANE Select	NP_001009944.3:p.Arg2732=