Canonical Allele Identifier: CA394382850

Gene: PKD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3563A>T MANE Select	ENSP00000262304.4:p.His1188Leu
ENST00000262304.8:c.3563A>T	ENSP00000262304.4:p.His1188Leu
ENST00000415938.7:n.310+736A>T
ENST00000423118.5:c.3563A>T	ENSP00000399501.1:p.His1188Leu
ENST00000468674.5:n.430+736A>T
ENST00000469241.2:n.513A>T
ENST00000483024.1:c.233+212A>T
ENST00000483731.5:n.790+736A>T
ENST00000488185.2:c.473-3246A>T
ENST00000565639.6:n.773+736A>T
ENST00000568591.5:c.2226+736A>T	ENSP00000457162.1:n.2226+736A>T
ENST00000569983.5:n.421+736A>T
NM_000296.3:c.3563A>T	NP_000287.3:p.His1188Leu
NM_001009944.2:c.3563A>T	NP_001009944.2:p.His1188Leu
XM_005255370.2:c.518A>T	XP_005255427.1:p.His173Leu
XM_011522525.1:c.3641A>T	XP_011520827.1:p.His1214Leu
XM_011522526.1:c.3641A>T	XP_011520828.1:p.His1214Leu
XM_011522527.1:c.3641A>T	XP_011520829.1:p.His1214Leu
XM_011522528.1:c.3617A>T	XP_011520830.1:p.His1206Leu
XM_011522529.1:c.3617A>T	XP_011520831.1:p.His1206Leu
XM_011522530.1:c.3587A>T	XP_011520832.1:p.His1196Leu
XM_011522531.1:c.3569A>T	XP_011520833.1:p.His1190Leu
XM_011522532.1:c.3515A>T	XP_011520834.1:p.His1172Leu
XM_011522533.1:c.3434A>T	XP_011520835.1:p.His1145Leu
XM_011522534.1:c.3377A>T	XP_011520836.1:p.His1126Leu
XM_011522535.1:c.1463A>T	XP_011520837.1:p.His488Leu
XM_011522536.1:c.3641A>T	XP_011520838.1:p.His1214Leu
XM_011522537.1:c.641A>T	XP_011520839.1:p.His214Leu
XR_932867.1:n.3656A>T
XR_932868.1:n.3656A>T
XR_932869.1:n.3656A>T
XR_932870.1:n.3656A>T
XM_005255370.3:c.518A>T	XP_005255427.1:p.His173Leu
XM_011522528.3:c.3617A>T	XP_011520830.1:p.His1206Leu
XM_011522529.2:c.3617A>T	XP_011520831.1:p.His1206Leu
XM_011522537.2:c.641A>T	XP_011520839.1:p.His214Leu
XM_024450298.1:c.3683A>T	XP_024306066.1:p.His1228Leu
XM_024450299.1:c.3611A>T	XP_024306067.1:p.His1204Leu
XM_024450300.1:c.3473A>T	XP_024306068.1:p.His1158Leu
XM_024450301.1:c.1559A>T	XP_024306069.1:p.His520Leu
NM_000296.4:c.3563A>T	NP_000287.4:p.His1188Leu
NM_001009944.3:c.3563A>T MANE Select	NP_001009944.3:p.His1188Leu