Canonical Allele Identifier: CA394370036

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156530C>G (hg19) ; chr16:g.2106529C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106529C>G , CM000678.2:g.2106529C>G	GRCh38
NC_000016.9:g.2156530C>G , CM000678.1:g.2156530C>G	GRCh37
NC_000016.8:g.2096531C>G	NCBI36
NG_008617.1:g.34370G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7358G>C MANE Select	ENSP00000262304.4:p.Arg2453Pro
ENST00000262304.8:c.7358G>C	ENSP00000262304.4:p.Arg2453Pro
ENST00000415938.7:n.603G>C
ENST00000423118.5:c.7358G>C	ENSP00000399501.1:p.Arg2453Pro
ENST00000483558.5:n.417G>C
ENST00000483731.5:n.1083G>C
ENST00000486339.6:n.1104G>C
ENST00000487932.5:c.2045G>C	ENSP00000457132.1:p.Arg682Pro
ENST00000496574.6:n.1361G>C
ENST00000565639.6:n.1066G>C
ENST00000568591.5:c.2519G>C	ENSP00000457162.1:n.2519G>C
ENST00000569983.5:n.714G>C
NM_000296.3:c.7358G>C	NP_000287.3:p.Arg2453Pro
NM_001009944.2:c.7358G>C	NP_001009944.2:p.Arg2453Pro
XM_005255370.2:c.4313G>C	XP_005255427.1:p.Arg1438Pro
XM_011522525.1:c.7436G>C	XP_011520827.1:p.Arg2479Pro
XM_011522526.1:c.7436G>C	XP_011520828.1:p.Arg2479Pro
XM_011522527.1:c.7436G>C	XP_011520829.1:p.Arg2479Pro
XM_011522528.1:c.7412G>C	XP_011520830.1:p.Arg2471Pro
XM_011522529.1:c.7412G>C	XP_011520831.1:p.Arg2471Pro
XM_011522530.1:c.7382G>C	XP_011520832.1:p.Arg2461Pro
XM_011522531.1:c.7364G>C	XP_011520833.1:p.Arg2455Pro
XM_011522532.1:c.7310G>C	XP_011520834.1:p.Arg2437Pro
XM_011522533.1:c.7229G>C	XP_011520835.1:p.Arg2410Pro
XM_011522534.1:c.7172G>C	XP_011520836.1:p.Arg2391Pro
XM_011522535.1:c.5258G>C	XP_011520837.1:p.Arg1753Pro
XM_011522536.1:c.7436G>C	XP_011520838.1:p.Arg2479Pro
XM_011522537.1:c.4436G>C	XP_011520839.1:p.Arg1479Pro
XR_932867.1:n.7451G>C
XR_932868.1:n.7451G>C
XR_932869.1:n.7451G>C
XR_932870.1:n.7451G>C
XM_005255370.3:c.4313G>C	XP_005255427.1:p.Arg1438Pro
XM_011522528.3:c.7412G>C	XP_011520830.1:p.Arg2471Pro
XM_011522529.2:c.7412G>C	XP_011520831.1:p.Arg2471Pro
XM_011522537.2:c.4436G>C	XP_011520839.1:p.Arg1479Pro
XM_024450298.1:c.7478G>C	XP_024306066.1:p.Arg2493Pro
XM_024450299.1:c.7406G>C	XP_024306067.1:p.Arg2469Pro
XM_024450300.1:c.7268G>C	XP_024306068.1:p.Arg2423Pro
XM_024450301.1:c.5354G>C	XP_024306069.1:p.Arg1785Pro
NM_000296.4:c.7358G>C	NP_000287.4:p.Arg2453Pro
NM_001009944.3:c.7358G>C MANE Select	NP_001009944.3:p.Arg2453Pro