Canonical Allele Identifier: CA394371170

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156648T>C (hg19) ; chr16:g.2106647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106647T>C , CM000678.2:g.2106647T>C	GRCh38
NC_000016.9:g.2156648T>C , CM000678.1:g.2156648T>C	GRCh37
NC_000016.8:g.2096649T>C	NCBI36
NG_008617.1:g.34252A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7240A>G MANE Select	ENSP00000262304.4:p.Thr2414Ala
ENST00000262304.8:c.7240A>G	ENSP00000262304.4:p.Thr2414Ala
ENST00000415938.7:n.485A>G
ENST00000423118.5:c.7240A>G	ENSP00000399501.1:p.Thr2414Ala
ENST00000483024.1:c.408A>G
ENST00000483558.5:n.299A>G
ENST00000483731.5:n.965A>G
ENST00000486339.6:n.986A>G
ENST00000487932.5:c.1927A>G	ENSP00000457132.1:p.Thr643Ala
ENST00000496574.6:n.1243A>G
ENST00000565639.6:n.948A>G
ENST00000568591.5:c.2401A>G	ENSP00000457162.1:n.2401A>G
ENST00000569983.5:n.596A>G
NM_000296.3:c.7240A>G	NP_000287.3:p.Thr2414Ala
NM_001009944.2:c.7240A>G	NP_001009944.2:p.Thr2414Ala
XM_005255370.2:c.4195A>G	XP_005255427.1:p.Thr1399Ala
XM_011522525.1:c.7318A>G	XP_011520827.1:p.Thr2440Ala
XM_011522526.1:c.7318A>G	XP_011520828.1:p.Thr2440Ala
XM_011522527.1:c.7318A>G	XP_011520829.1:p.Thr2440Ala
XM_011522528.1:c.7294A>G	XP_011520830.1:p.Thr2432Ala
XM_011522529.1:c.7294A>G	XP_011520831.1:p.Thr2432Ala
XM_011522530.1:c.7264A>G	XP_011520832.1:p.Thr2422Ala
XM_011522531.1:c.7246A>G	XP_011520833.1:p.Thr2416Ala
XM_011522532.1:c.7192A>G	XP_011520834.1:p.Thr2398Ala
XM_011522533.1:c.7111A>G	XP_011520835.1:p.Thr2371Ala
XM_011522534.1:c.7054A>G	XP_011520836.1:p.Thr2352Ala
XM_011522535.1:c.5140A>G	XP_011520837.1:p.Thr1714Ala
XM_011522536.1:c.7318A>G	XP_011520838.1:p.Thr2440Ala
XM_011522537.1:c.4318A>G	XP_011520839.1:p.Thr1440Ala
XR_932867.1:n.7333A>G
XR_932868.1:n.7333A>G
XR_932869.1:n.7333A>G
XR_932870.1:n.7333A>G
XM_005255370.3:c.4195A>G	XP_005255427.1:p.Thr1399Ala
XM_011522528.3:c.7294A>G	XP_011520830.1:p.Thr2432Ala
XM_011522529.2:c.7294A>G	XP_011520831.1:p.Thr2432Ala
XM_011522537.2:c.4318A>G	XP_011520839.1:p.Thr1440Ala
XM_024450298.1:c.7360A>G	XP_024306066.1:p.Thr2454Ala
XM_024450299.1:c.7288A>G	XP_024306067.1:p.Thr2430Ala
XM_024450300.1:c.7150A>G	XP_024306068.1:p.Thr2384Ala
XM_024450301.1:c.5236A>G	XP_024306069.1:p.Thr1746Ala
NM_000296.4:c.7240A>G	NP_000287.4:p.Thr2414Ala
NM_001009944.3:c.7240A>G MANE Select	NP_001009944.3:p.Thr2414Ala