Canonical Allele Identifier: CA493046747

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106552-G-C
• MyVariant Identifiers: chr16:g.2156553G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106552G>C , CM000678.2:g.2106552G>C	GRCh38
NC_000016.9:g.2156553G>C , CM000678.1:g.2156553G>C	GRCh37
NC_000016.8:g.2096554G>C	NCBI36
NG_008617.1:g.34347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7335C>G MANE Select	ENSP00000262304.4:p.Thr2445=
ENST00000262304.8:c.7335C>G	ENSP00000262304.4:p.Thr2445=
ENST00000415938.7:n.580C>G
ENST00000423118.5:c.7335C>G	ENSP00000399501.1:p.Thr2445=
ENST00000483558.5:n.394C>G
ENST00000483731.5:n.1060C>G
ENST00000486339.6:n.1081C>G
ENST00000487932.5:c.2022C>G	ENSP00000457132.1:p.Thr674=
ENST00000496574.6:n.1338C>G
ENST00000565639.6:n.1043C>G
ENST00000568591.5:c.2496C>G	ENSP00000457162.1:n.2496C>G
ENST00000569983.5:n.691C>G
NM_000296.3:c.7335C>G	NP_000287.3:p.Thr2445=
NM_001009944.2:c.7335C>G	NP_001009944.2:p.Thr2445=
XM_005255370.2:c.4290C>G	XP_005255427.1:p.Thr1430=
XM_011522525.1:c.7413C>G	XP_011520827.1:p.Thr2471=
XM_011522526.1:c.7413C>G	XP_011520828.1:p.Thr2471=
XM_011522527.1:c.7413C>G	XP_011520829.1:p.Thr2471=
XM_011522528.1:c.7389C>G	XP_011520830.1:p.Thr2463=
XM_011522529.1:c.7389C>G	XP_011520831.1:p.Thr2463=
XM_011522530.1:c.7359C>G	XP_011520832.1:p.Thr2453=
XM_011522531.1:c.7341C>G	XP_011520833.1:p.Thr2447=
XM_011522532.1:c.7287C>G	XP_011520834.1:p.Thr2429=
XM_011522533.1:c.7206C>G	XP_011520835.1:p.Thr2402=
XM_011522534.1:c.7149C>G	XP_011520836.1:p.Thr2383=
XM_011522535.1:c.5235C>G	XP_011520837.1:p.Thr1745=
XM_011522536.1:c.7413C>G	XP_011520838.1:p.Thr2471=
XM_011522537.1:c.4413C>G	XP_011520839.1:p.Thr1471=
XR_932867.1:n.7428C>G
XR_932868.1:n.7428C>G
XR_932869.1:n.7428C>G
XR_932870.1:n.7428C>G
XM_005255370.3:c.4290C>G	XP_005255427.1:p.Thr1430=
XM_011522528.3:c.7389C>G	XP_011520830.1:p.Thr2463=
XM_011522529.2:c.7389C>G	XP_011520831.1:p.Thr2463=
XM_011522537.2:c.4413C>G	XP_011520839.1:p.Thr1471=
XM_024450298.1:c.7455C>G	XP_024306066.1:p.Thr2485=
XM_024450299.1:c.7383C>G	XP_024306067.1:p.Thr2461=
XM_024450300.1:c.7245C>G	XP_024306068.1:p.Thr2415=
XM_024450301.1:c.5331C>G	XP_024306069.1:p.Thr1777=
NM_000296.4:c.7335C>G	NP_000287.4:p.Thr2445=
NM_001009944.3:c.7335C>G MANE Select	NP_001009944.3:p.Thr2445=