Canonical Allele Identifier: CA394382743

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161548C>G (hg19) ; chr16:g.2111547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111547C>G , CM000678.2:g.2111547C>G	GRCh38
NC_000016.9:g.2161548C>G , CM000678.1:g.2161548C>G	GRCh37
NC_000016.8:g.2101549C>G	NCBI36
NG_008617.1:g.29352G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3620G>C MANE Select	ENSP00000262304.4:p.Arg1207Pro
ENST00000262304.8:c.3620G>C	ENSP00000262304.4:p.Arg1207Pro
ENST00000415938.7:n.310+793G>C
ENST00000423118.5:c.3620G>C	ENSP00000399501.1:p.Arg1207Pro
ENST00000468674.5:n.430+793G>C
ENST00000469241.2:n.570G>C
ENST00000483024.1:c.233+269G>C
ENST00000483731.5:n.790+793G>C
ENST00000488185.2:c.473-3189G>C
ENST00000565639.6:n.773+793G>C
ENST00000568591.5:c.2226+793G>C	ENSP00000457162.1:n.2226+793G>C
ENST00000569983.5:n.421+793G>C
NM_000296.3:c.3620G>C	NP_000287.3:p.Arg1207Pro
NM_001009944.2:c.3620G>C	NP_001009944.2:p.Arg1207Pro
XM_005255370.2:c.575G>C	XP_005255427.1:p.Arg192Pro
XM_011522525.1:c.3698G>C	XP_011520827.1:p.Arg1233Pro
XM_011522526.1:c.3698G>C	XP_011520828.1:p.Arg1233Pro
XM_011522527.1:c.3698G>C	XP_011520829.1:p.Arg1233Pro
XM_011522528.1:c.3674G>C	XP_011520830.1:p.Arg1225Pro
XM_011522529.1:c.3674G>C	XP_011520831.1:p.Arg1225Pro
XM_011522530.1:c.3644G>C	XP_011520832.1:p.Arg1215Pro
XM_011522531.1:c.3626G>C	XP_011520833.1:p.Arg1209Pro
XM_011522532.1:c.3572G>C	XP_011520834.1:p.Arg1191Pro
XM_011522533.1:c.3491G>C	XP_011520835.1:p.Arg1164Pro
XM_011522534.1:c.3434G>C	XP_011520836.1:p.Arg1145Pro
XM_011522535.1:c.1520G>C	XP_011520837.1:p.Arg507Pro
XM_011522536.1:c.3698G>C	XP_011520838.1:p.Arg1233Pro
XM_011522537.1:c.698G>C	XP_011520839.1:p.Arg233Pro
XR_932867.1:n.3713G>C
XR_932868.1:n.3713G>C
XR_932869.1:n.3713G>C
XR_932870.1:n.3713G>C
XM_005255370.3:c.575G>C	XP_005255427.1:p.Arg192Pro
XM_011522528.3:c.3674G>C	XP_011520830.1:p.Arg1225Pro
XM_011522529.2:c.3674G>C	XP_011520831.1:p.Arg1225Pro
XM_011522537.2:c.698G>C	XP_011520839.1:p.Arg233Pro
XM_024450298.1:c.3740G>C	XP_024306066.1:p.Arg1247Pro
XM_024450299.1:c.3668G>C	XP_024306067.1:p.Arg1223Pro
XM_024450300.1:c.3530G>C	XP_024306068.1:p.Arg1177Pro
XM_024450301.1:c.1616G>C	XP_024306069.1:p.Arg539Pro
NM_000296.4:c.3620G>C	NP_000287.4:p.Arg1207Pro
NM_001009944.3:c.3620G>C MANE Select	NP_001009944.3:p.Arg1207Pro