Canonical Allele Identifier: CA493049759

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161664A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111663A>C , CM000678.2:g.2111663A>C	GRCh38
NC_000016.9:g.2161664A>C , CM000678.1:g.2161664A>C	GRCh37
NC_000016.8:g.2101665A>C	NCBI36
NG_008617.1:g.29236T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3504T>G MANE Select	ENSP00000262304.4:p.Pro1168=
ENST00000262304.8:c.3504T>G	ENSP00000262304.4:p.Pro1168=
ENST00000415938.7:n.310+677T>G
ENST00000423118.5:c.3504T>G	ENSP00000399501.1:p.Pro1168=
ENST00000468674.5:n.430+677T>G
ENST00000469241.2:n.454T>G
ENST00000483024.1:c.233+153T>G
ENST00000483731.5:n.790+677T>G
ENST00000488185.2:c.473-3305T>G
ENST00000565639.6:n.773+677T>G
ENST00000568591.5:c.2226+677T>G	ENSP00000457162.1:n.2226+677T>G
ENST00000569983.5:n.421+677T>G
NM_000296.3:c.3504T>G	NP_000287.3:p.Pro1168=
NM_001009944.2:c.3504T>G	NP_001009944.2:p.Pro1168=
XM_005255370.2:c.459T>G	XP_005255427.1:p.Pro153=
XM_011522525.1:c.3582T>G	XP_011520827.1:p.Pro1194=
XM_011522526.1:c.3582T>G	XP_011520828.1:p.Pro1194=
XM_011522527.1:c.3582T>G	XP_011520829.1:p.Pro1194=
XM_011522528.1:c.3558T>G	XP_011520830.1:p.Pro1186=
XM_011522529.1:c.3558T>G	XP_011520831.1:p.Pro1186=
XM_011522530.1:c.3528T>G	XP_011520832.1:p.Pro1176=
XM_011522531.1:c.3510T>G	XP_011520833.1:p.Pro1170=
XM_011522532.1:c.3456T>G	XP_011520834.1:p.Pro1152=
XM_011522533.1:c.3375T>G	XP_011520835.1:p.Pro1125=
XM_011522534.1:c.3318T>G	XP_011520836.1:p.Pro1106=
XM_011522535.1:c.1404T>G	XP_011520837.1:p.Pro468=
XM_011522536.1:c.3582T>G	XP_011520838.1:p.Pro1194=
XM_011522537.1:c.582T>G	XP_011520839.1:p.Pro194=
XR_932867.1:n.3597T>G
XR_932868.1:n.3597T>G
XR_932869.1:n.3597T>G
XR_932870.1:n.3597T>G
XM_005255370.3:c.459T>G	XP_005255427.1:p.Pro153=
XM_011522528.3:c.3558T>G	XP_011520830.1:p.Pro1186=
XM_011522529.2:c.3558T>G	XP_011520831.1:p.Pro1186=
XM_011522537.2:c.582T>G	XP_011520839.1:p.Pro194=
XM_024450298.1:c.3624T>G	XP_024306066.1:p.Pro1208=
XM_024450299.1:c.3552T>G	XP_024306067.1:p.Pro1184=
XM_024450300.1:c.3414T>G	XP_024306068.1:p.Pro1138=
XM_024450301.1:c.1500T>G	XP_024306069.1:p.Pro500=
NM_000296.4:c.3504T>G	NP_000287.4:p.Pro1168=
NM_001009944.3:c.3504T>G MANE Select	NP_001009944.3:p.Pro1168=