Canonical Allele Identifier: CA394371180

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156650T>G (hg19) ; chr16:g.2106649T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106649T>G , CM000678.2:g.2106649T>G	GRCh38
NC_000016.9:g.2156650T>G , CM000678.1:g.2156650T>G	GRCh37
NC_000016.8:g.2096651T>G	NCBI36
NG_008617.1:g.34250A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7238A>C MANE Select	ENSP00000262304.4:p.Lys2413Thr
ENST00000262304.8:c.7238A>C	ENSP00000262304.4:p.Lys2413Thr
ENST00000415938.7:n.483A>C
ENST00000423118.5:c.7238A>C	ENSP00000399501.1:p.Lys2413Thr
ENST00000483024.1:c.406A>C
ENST00000483558.5:n.297A>C
ENST00000483731.5:n.963A>C
ENST00000486339.6:n.984A>C
ENST00000487932.5:c.1925A>C	ENSP00000457132.1:p.Lys642Thr
ENST00000496574.6:n.1241A>C
ENST00000565639.6:n.946A>C
ENST00000568591.5:c.2399A>C	ENSP00000457162.1:n.2399A>C
ENST00000569983.5:n.594A>C
NM_000296.3:c.7238A>C	NP_000287.3:p.Lys2413Thr
NM_001009944.2:c.7238A>C	NP_001009944.2:p.Lys2413Thr
XM_005255370.2:c.4193A>C	XP_005255427.1:p.Lys1398Thr
XM_011522525.1:c.7316A>C	XP_011520827.1:p.Lys2439Thr
XM_011522526.1:c.7316A>C	XP_011520828.1:p.Lys2439Thr
XM_011522527.1:c.7316A>C	XP_011520829.1:p.Lys2439Thr
XM_011522528.1:c.7292A>C	XP_011520830.1:p.Lys2431Thr
XM_011522529.1:c.7292A>C	XP_011520831.1:p.Lys2431Thr
XM_011522530.1:c.7262A>C	XP_011520832.1:p.Lys2421Thr
XM_011522531.1:c.7244A>C	XP_011520833.1:p.Lys2415Thr
XM_011522532.1:c.7190A>C	XP_011520834.1:p.Lys2397Thr
XM_011522533.1:c.7109A>C	XP_011520835.1:p.Lys2370Thr
XM_011522534.1:c.7052A>C	XP_011520836.1:p.Lys2351Thr
XM_011522535.1:c.5138A>C	XP_011520837.1:p.Lys1713Thr
XM_011522536.1:c.7316A>C	XP_011520838.1:p.Lys2439Thr
XM_011522537.1:c.4316A>C	XP_011520839.1:p.Lys1439Thr
XR_932867.1:n.7331A>C
XR_932868.1:n.7331A>C
XR_932869.1:n.7331A>C
XR_932870.1:n.7331A>C
XM_005255370.3:c.4193A>C	XP_005255427.1:p.Lys1398Thr
XM_011522528.3:c.7292A>C	XP_011520830.1:p.Lys2431Thr
XM_011522529.2:c.7292A>C	XP_011520831.1:p.Lys2431Thr
XM_011522537.2:c.4316A>C	XP_011520839.1:p.Lys1439Thr
XM_024450298.1:c.7358A>C	XP_024306066.1:p.Lys2453Thr
XM_024450299.1:c.7286A>C	XP_024306067.1:p.Lys2429Thr
XM_024450300.1:c.7148A>C	XP_024306068.1:p.Lys2383Thr
XM_024450301.1:c.5234A>C	XP_024306069.1:p.Lys1745Thr
NM_000296.4:c.7238A>C	NP_000287.4:p.Lys2413Thr
NM_001009944.3:c.7238A>C MANE Select	NP_001009944.3:p.Lys2413Thr