Canonical Allele Identifier: CA394370158

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106554-T-C
• MyVariant Identifiers: chr16:g.2156555T>C (hg19) ; chr16:g.2106554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106554T>C , CM000678.2:g.2106554T>C	GRCh38
NC_000016.9:g.2156555T>C , CM000678.1:g.2156555T>C	GRCh37
NC_000016.8:g.2096556T>C	NCBI36
NG_008617.1:g.34345A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7333A>G MANE Select	ENSP00000262304.4:p.Thr2445Ala
ENST00000262304.8:c.7333A>G	ENSP00000262304.4:p.Thr2445Ala
ENST00000415938.7:n.578A>G
ENST00000423118.5:c.7333A>G	ENSP00000399501.1:p.Thr2445Ala
ENST00000483558.5:n.392A>G
ENST00000483731.5:n.1058A>G
ENST00000486339.6:n.1079A>G
ENST00000487932.5:c.2020A>G	ENSP00000457132.1:p.Thr674Ala
ENST00000496574.6:n.1336A>G
ENST00000565639.6:n.1041A>G
ENST00000568591.5:c.2494A>G	ENSP00000457162.1:n.2494A>G
ENST00000569983.5:n.689A>G
NM_000296.3:c.7333A>G	NP_000287.3:p.Thr2445Ala
NM_001009944.2:c.7333A>G	NP_001009944.2:p.Thr2445Ala
XM_005255370.2:c.4288A>G	XP_005255427.1:p.Thr1430Ala
XM_011522525.1:c.7411A>G	XP_011520827.1:p.Thr2471Ala
XM_011522526.1:c.7411A>G	XP_011520828.1:p.Thr2471Ala
XM_011522527.1:c.7411A>G	XP_011520829.1:p.Thr2471Ala
XM_011522528.1:c.7387A>G	XP_011520830.1:p.Thr2463Ala
XM_011522529.1:c.7387A>G	XP_011520831.1:p.Thr2463Ala
XM_011522530.1:c.7357A>G	XP_011520832.1:p.Thr2453Ala
XM_011522531.1:c.7339A>G	XP_011520833.1:p.Thr2447Ala
XM_011522532.1:c.7285A>G	XP_011520834.1:p.Thr2429Ala
XM_011522533.1:c.7204A>G	XP_011520835.1:p.Thr2402Ala
XM_011522534.1:c.7147A>G	XP_011520836.1:p.Thr2383Ala
XM_011522535.1:c.5233A>G	XP_011520837.1:p.Thr1745Ala
XM_011522536.1:c.7411A>G	XP_011520838.1:p.Thr2471Ala
XM_011522537.1:c.4411A>G	XP_011520839.1:p.Thr1471Ala
XR_932867.1:n.7426A>G
XR_932868.1:n.7426A>G
XR_932869.1:n.7426A>G
XR_932870.1:n.7426A>G
XM_005255370.3:c.4288A>G	XP_005255427.1:p.Thr1430Ala
XM_011522528.3:c.7387A>G	XP_011520830.1:p.Thr2463Ala
XM_011522529.2:c.7387A>G	XP_011520831.1:p.Thr2463Ala
XM_011522537.2:c.4411A>G	XP_011520839.1:p.Thr1471Ala
XM_024450298.1:c.7453A>G	XP_024306066.1:p.Thr2485Ala
XM_024450299.1:c.7381A>G	XP_024306067.1:p.Thr2461Ala
XM_024450300.1:c.7243A>G	XP_024306068.1:p.Thr2415Ala
XM_024450301.1:c.5329A>G	XP_024306069.1:p.Thr1777Ala
NM_000296.4:c.7333A>G	NP_000287.4:p.Thr2445Ala
NM_001009944.3:c.7333A>G MANE Select	NP_001009944.3:p.Thr2445Ala