Canonical Allele Identifier: CA394383004

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161682G>T (hg19) ; chr16:g.2111681G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111681G>T , CM000678.2:g.2111681G>T	GRCh38
NC_000016.9:g.2161682G>T , CM000678.1:g.2161682G>T	GRCh37
NC_000016.8:g.2101683G>T	NCBI36
NG_008617.1:g.29218C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3486C>A MANE Select	ENSP00000262304.4:p.Asp1162Glu
ENST00000262304.8:c.3486C>A	ENSP00000262304.4:p.Asp1162Glu
ENST00000415938.7:n.310+659C>A
ENST00000423118.5:c.3486C>A	ENSP00000399501.1:p.Asp1162Glu
ENST00000468674.5:n.430+659C>A
ENST00000469241.2:n.436C>A
ENST00000483024.1:c.233+135C>A
ENST00000483731.5:n.790+659C>A
ENST00000488185.2:c.473-3323C>A
ENST00000565639.6:n.773+659C>A
ENST00000568591.5:c.2226+659C>A	ENSP00000457162.1:n.2226+659C>A
ENST00000569983.5:n.421+659C>A
NM_000296.3:c.3486C>A	NP_000287.3:p.Asp1162Glu
NM_001009944.2:c.3486C>A	NP_001009944.2:p.Asp1162Glu
XM_005255370.2:c.441C>A	XP_005255427.1:p.Asp147Glu
XM_011522525.1:c.3564C>A	XP_011520827.1:p.Asp1188Glu
XM_011522526.1:c.3564C>A	XP_011520828.1:p.Asp1188Glu
XM_011522527.1:c.3564C>A	XP_011520829.1:p.Asp1188Glu
XM_011522528.1:c.3540C>A	XP_011520830.1:p.Asp1180Glu
XM_011522529.1:c.3540C>A	XP_011520831.1:p.Asp1180Glu
XM_011522530.1:c.3510C>A	XP_011520832.1:p.Asp1170Glu
XM_011522531.1:c.3492C>A	XP_011520833.1:p.Asp1164Glu
XM_011522532.1:c.3438C>A	XP_011520834.1:p.Asp1146Glu
XM_011522533.1:c.3357C>A	XP_011520835.1:p.Asp1119Glu
XM_011522534.1:c.3300C>A	XP_011520836.1:p.Asp1100Glu
XM_011522535.1:c.1386C>A	XP_011520837.1:p.Asp462Glu
XM_011522536.1:c.3564C>A	XP_011520838.1:p.Asp1188Glu
XM_011522537.1:c.564C>A	XP_011520839.1:p.Asp188Glu
XR_932867.1:n.3579C>A
XR_932868.1:n.3579C>A
XR_932869.1:n.3579C>A
XR_932870.1:n.3579C>A
XM_005255370.3:c.441C>A	XP_005255427.1:p.Asp147Glu
XM_011522528.3:c.3540C>A	XP_011520830.1:p.Asp1180Glu
XM_011522529.2:c.3540C>A	XP_011520831.1:p.Asp1180Glu
XM_011522537.2:c.564C>A	XP_011520839.1:p.Asp188Glu
XM_024450298.1:c.3606C>A	XP_024306066.1:p.Asp1202Glu
XM_024450299.1:c.3534C>A	XP_024306067.1:p.Asp1178Glu
XM_024450300.1:c.3396C>A	XP_024306068.1:p.Asp1132Glu
XM_024450301.1:c.1482C>A	XP_024306069.1:p.Asp494Glu
NM_000296.4:c.3486C>A	NP_000287.4:p.Asp1162Glu
NM_001009944.3:c.3486C>A MANE Select	NP_001009944.3:p.Asp1162Glu