Canonical Allele Identifier: CA394370085

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156543T>G (hg19) ; chr16:g.2106542T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106542T>G , CM000678.2:g.2106542T>G	GRCh38
NC_000016.9:g.2156543T>G , CM000678.1:g.2156543T>G	GRCh37
NC_000016.8:g.2096544T>G	NCBI36
NG_008617.1:g.34357A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7345A>C MANE Select	ENSP00000262304.4:p.Thr2449Pro
ENST00000262304.8:c.7345A>C	ENSP00000262304.4:p.Thr2449Pro
ENST00000415938.7:n.590A>C
ENST00000423118.5:c.7345A>C	ENSP00000399501.1:p.Thr2449Pro
ENST00000483558.5:n.404A>C
ENST00000483731.5:n.1070A>C
ENST00000486339.6:n.1091A>C
ENST00000487932.5:c.2032A>C	ENSP00000457132.1:p.Thr678Pro
ENST00000496574.6:n.1348A>C
ENST00000565639.6:n.1053A>C
ENST00000568591.5:c.2506A>C	ENSP00000457162.1:n.2506A>C
ENST00000569983.5:n.701A>C
NM_000296.3:c.7345A>C	NP_000287.3:p.Thr2449Pro
NM_001009944.2:c.7345A>C	NP_001009944.2:p.Thr2449Pro
XM_005255370.2:c.4300A>C	XP_005255427.1:p.Thr1434Pro
XM_011522525.1:c.7423A>C	XP_011520827.1:p.Thr2475Pro
XM_011522526.1:c.7423A>C	XP_011520828.1:p.Thr2475Pro
XM_011522527.1:c.7423A>C	XP_011520829.1:p.Thr2475Pro
XM_011522528.1:c.7399A>C	XP_011520830.1:p.Thr2467Pro
XM_011522529.1:c.7399A>C	XP_011520831.1:p.Thr2467Pro
XM_011522530.1:c.7369A>C	XP_011520832.1:p.Thr2457Pro
XM_011522531.1:c.7351A>C	XP_011520833.1:p.Thr2451Pro
XM_011522532.1:c.7297A>C	XP_011520834.1:p.Thr2433Pro
XM_011522533.1:c.7216A>C	XP_011520835.1:p.Thr2406Pro
XM_011522534.1:c.7159A>C	XP_011520836.1:p.Thr2387Pro
XM_011522535.1:c.5245A>C	XP_011520837.1:p.Thr1749Pro
XM_011522536.1:c.7423A>C	XP_011520838.1:p.Thr2475Pro
XM_011522537.1:c.4423A>C	XP_011520839.1:p.Thr1475Pro
XR_932867.1:n.7438A>C
XR_932868.1:n.7438A>C
XR_932869.1:n.7438A>C
XR_932870.1:n.7438A>C
XM_005255370.3:c.4300A>C	XP_005255427.1:p.Thr1434Pro
XM_011522528.3:c.7399A>C	XP_011520830.1:p.Thr2467Pro
XM_011522529.2:c.7399A>C	XP_011520831.1:p.Thr2467Pro
XM_011522537.2:c.4423A>C	XP_011520839.1:p.Thr1475Pro
XM_024450298.1:c.7465A>C	XP_024306066.1:p.Thr2489Pro
XM_024450299.1:c.7393A>C	XP_024306067.1:p.Thr2465Pro
XM_024450300.1:c.7255A>C	XP_024306068.1:p.Thr2419Pro
XM_024450301.1:c.5341A>C	XP_024306069.1:p.Thr1781Pro
NM_000296.4:c.7345A>C	NP_000287.4:p.Thr2449Pro
NM_001009944.3:c.7345A>C MANE Select	NP_001009944.3:p.Thr2449Pro