Canonical Allele Identifier: CA394370123

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156549T>G (hg19) ; chr16:g.2106548T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106548T>G , CM000678.2:g.2106548T>G	GRCh38
NC_000016.9:g.2156549T>G , CM000678.1:g.2156549T>G	GRCh37
NC_000016.8:g.2096550T>G	NCBI36
NG_008617.1:g.34351A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7339A>C MANE Select	ENSP00000262304.4:p.Thr2447Pro
ENST00000262304.8:c.7339A>C	ENSP00000262304.4:p.Thr2447Pro
ENST00000415938.7:n.584A>C
ENST00000423118.5:c.7339A>C	ENSP00000399501.1:p.Thr2447Pro
ENST00000483558.5:n.398A>C
ENST00000483731.5:n.1064A>C
ENST00000486339.6:n.1085A>C
ENST00000487932.5:c.2026A>C	ENSP00000457132.1:p.Thr676Pro
ENST00000496574.6:n.1342A>C
ENST00000565639.6:n.1047A>C
ENST00000568591.5:c.2500A>C	ENSP00000457162.1:n.2500A>C
ENST00000569983.5:n.695A>C
NM_000296.3:c.7339A>C	NP_000287.3:p.Thr2447Pro
NM_001009944.2:c.7339A>C	NP_001009944.2:p.Thr2447Pro
XM_005255370.2:c.4294A>C	XP_005255427.1:p.Thr1432Pro
XM_011522525.1:c.7417A>C	XP_011520827.1:p.Thr2473Pro
XM_011522526.1:c.7417A>C	XP_011520828.1:p.Thr2473Pro
XM_011522527.1:c.7417A>C	XP_011520829.1:p.Thr2473Pro
XM_011522528.1:c.7393A>C	XP_011520830.1:p.Thr2465Pro
XM_011522529.1:c.7393A>C	XP_011520831.1:p.Thr2465Pro
XM_011522530.1:c.7363A>C	XP_011520832.1:p.Thr2455Pro
XM_011522531.1:c.7345A>C	XP_011520833.1:p.Thr2449Pro
XM_011522532.1:c.7291A>C	XP_011520834.1:p.Thr2431Pro
XM_011522533.1:c.7210A>C	XP_011520835.1:p.Thr2404Pro
XM_011522534.1:c.7153A>C	XP_011520836.1:p.Thr2385Pro
XM_011522535.1:c.5239A>C	XP_011520837.1:p.Thr1747Pro
XM_011522536.1:c.7417A>C	XP_011520838.1:p.Thr2473Pro
XM_011522537.1:c.4417A>C	XP_011520839.1:p.Thr1473Pro
XR_932867.1:n.7432A>C
XR_932868.1:n.7432A>C
XR_932869.1:n.7432A>C
XR_932870.1:n.7432A>C
XM_005255370.3:c.4294A>C	XP_005255427.1:p.Thr1432Pro
XM_011522528.3:c.7393A>C	XP_011520830.1:p.Thr2465Pro
XM_011522529.2:c.7393A>C	XP_011520831.1:p.Thr2465Pro
XM_011522537.2:c.4417A>C	XP_011520839.1:p.Thr1473Pro
XM_024450298.1:c.7459A>C	XP_024306066.1:p.Thr2487Pro
XM_024450299.1:c.7387A>C	XP_024306067.1:p.Thr2463Pro
XM_024450300.1:c.7249A>C	XP_024306068.1:p.Thr2417Pro
XM_024450301.1:c.5335A>C	XP_024306069.1:p.Thr1779Pro
NM_000296.4:c.7339A>C	NP_000287.4:p.Thr2447Pro
NM_001009944.3:c.7339A>C MANE Select	NP_001009944.3:p.Thr2447Pro