Canonical Allele Identifier: CA394382852

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161605T>G (hg19) ; chr16:g.2111604T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111604T>G , CM000678.2:g.2111604T>G	GRCh38
NC_000016.9:g.2161605T>G , CM000678.1:g.2161605T>G	GRCh37
NC_000016.8:g.2101606T>G	NCBI36
NG_008617.1:g.29295A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3563A>C MANE Select	ENSP00000262304.4:p.His1188Pro
ENST00000262304.8:c.3563A>C	ENSP00000262304.4:p.His1188Pro
ENST00000415938.7:n.310+736A>C
ENST00000423118.5:c.3563A>C	ENSP00000399501.1:p.His1188Pro
ENST00000468674.5:n.430+736A>C
ENST00000469241.2:n.513A>C
ENST00000483024.1:c.233+212A>C
ENST00000483731.5:n.790+736A>C
ENST00000488185.2:c.473-3246A>C
ENST00000565639.6:n.773+736A>C
ENST00000568591.5:c.2226+736A>C	ENSP00000457162.1:n.2226+736A>C
ENST00000569983.5:n.421+736A>C
NM_000296.3:c.3563A>C	NP_000287.3:p.His1188Pro
NM_001009944.2:c.3563A>C	NP_001009944.2:p.His1188Pro
XM_005255370.2:c.518A>C	XP_005255427.1:p.His173Pro
XM_011522525.1:c.3641A>C	XP_011520827.1:p.His1214Pro
XM_011522526.1:c.3641A>C	XP_011520828.1:p.His1214Pro
XM_011522527.1:c.3641A>C	XP_011520829.1:p.His1214Pro
XM_011522528.1:c.3617A>C	XP_011520830.1:p.His1206Pro
XM_011522529.1:c.3617A>C	XP_011520831.1:p.His1206Pro
XM_011522530.1:c.3587A>C	XP_011520832.1:p.His1196Pro
XM_011522531.1:c.3569A>C	XP_011520833.1:p.His1190Pro
XM_011522532.1:c.3515A>C	XP_011520834.1:p.His1172Pro
XM_011522533.1:c.3434A>C	XP_011520835.1:p.His1145Pro
XM_011522534.1:c.3377A>C	XP_011520836.1:p.His1126Pro
XM_011522535.1:c.1463A>C	XP_011520837.1:p.His488Pro
XM_011522536.1:c.3641A>C	XP_011520838.1:p.His1214Pro
XM_011522537.1:c.641A>C	XP_011520839.1:p.His214Pro
XR_932867.1:n.3656A>C
XR_932868.1:n.3656A>C
XR_932869.1:n.3656A>C
XR_932870.1:n.3656A>C
XM_005255370.3:c.518A>C	XP_005255427.1:p.His173Pro
XM_011522528.3:c.3617A>C	XP_011520830.1:p.His1206Pro
XM_011522529.2:c.3617A>C	XP_011520831.1:p.His1206Pro
XM_011522537.2:c.641A>C	XP_011520839.1:p.His214Pro
XM_024450298.1:c.3683A>C	XP_024306066.1:p.His1228Pro
XM_024450299.1:c.3611A>C	XP_024306067.1:p.His1204Pro
XM_024450300.1:c.3473A>C	XP_024306068.1:p.His1158Pro
XM_024450301.1:c.1559A>C	XP_024306069.1:p.His520Pro
NM_000296.4:c.3563A>C	NP_000287.4:p.His1188Pro
NM_001009944.3:c.3563A>C MANE Select	NP_001009944.3:p.His1188Pro