Canonical Allele Identifier: CA394371235

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156662G>C (hg19) ; chr16:g.2106661G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106661G>C , CM000678.2:g.2106661G>C	GRCh38
NC_000016.9:g.2156662G>C , CM000678.1:g.2156662G>C	GRCh37
NC_000016.8:g.2096663G>C	NCBI36
NG_008617.1:g.34238C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7226C>G MANE Select	ENSP00000262304.4:p.Thr2409Arg
ENST00000262304.8:c.7226C>G	ENSP00000262304.4:p.Thr2409Arg
ENST00000415938.7:n.471C>G
ENST00000423118.5:c.7226C>G	ENSP00000399501.1:p.Thr2409Arg
ENST00000483024.1:c.394C>G
ENST00000483558.5:n.285C>G
ENST00000483731.5:n.951C>G
ENST00000486339.6:n.972C>G
ENST00000487932.5:c.1913C>G	ENSP00000457132.1:p.Thr638Arg
ENST00000496574.6:n.1229C>G
ENST00000565639.6:n.934C>G
ENST00000568591.5:c.2387C>G	ENSP00000457162.1:n.2387C>G
ENST00000569983.5:n.582C>G
NM_000296.3:c.7226C>G	NP_000287.3:p.Thr2409Arg
NM_001009944.2:c.7226C>G	NP_001009944.2:p.Thr2409Arg
XM_005255370.2:c.4181C>G	XP_005255427.1:p.Thr1394Arg
XM_011522525.1:c.7304C>G	XP_011520827.1:p.Thr2435Arg
XM_011522526.1:c.7304C>G	XP_011520828.1:p.Thr2435Arg
XM_011522527.1:c.7304C>G	XP_011520829.1:p.Thr2435Arg
XM_011522528.1:c.7280C>G	XP_011520830.1:p.Thr2427Arg
XM_011522529.1:c.7280C>G	XP_011520831.1:p.Thr2427Arg
XM_011522530.1:c.7250C>G	XP_011520832.1:p.Thr2417Arg
XM_011522531.1:c.7232C>G	XP_011520833.1:p.Thr2411Arg
XM_011522532.1:c.7178C>G	XP_011520834.1:p.Thr2393Arg
XM_011522533.1:c.7097C>G	XP_011520835.1:p.Thr2366Arg
XM_011522534.1:c.7040C>G	XP_011520836.1:p.Thr2347Arg
XM_011522535.1:c.5126C>G	XP_011520837.1:p.Thr1709Arg
XM_011522536.1:c.7304C>G	XP_011520838.1:p.Thr2435Arg
XM_011522537.1:c.4304C>G	XP_011520839.1:p.Thr1435Arg
XR_932867.1:n.7319C>G
XR_932868.1:n.7319C>G
XR_932869.1:n.7319C>G
XR_932870.1:n.7319C>G
XM_005255370.3:c.4181C>G	XP_005255427.1:p.Thr1394Arg
XM_011522528.3:c.7280C>G	XP_011520830.1:p.Thr2427Arg
XM_011522529.2:c.7280C>G	XP_011520831.1:p.Thr2427Arg
XM_011522537.2:c.4304C>G	XP_011520839.1:p.Thr1435Arg
XM_024450298.1:c.7346C>G	XP_024306066.1:p.Thr2449Arg
XM_024450299.1:c.7274C>G	XP_024306067.1:p.Thr2425Arg
XM_024450300.1:c.7136C>G	XP_024306068.1:p.Thr2379Arg
XM_024450301.1:c.5222C>G	XP_024306069.1:p.Thr1741Arg
NM_000296.4:c.7226C>G	NP_000287.4:p.Thr2409Arg
NM_001009944.3:c.7226C>G MANE Select	NP_001009944.3:p.Thr2409Arg