Canonical Allele Identifier: CA394371178

Gene: PKD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7238A>G MANE Select	ENSP00000262304.4:p.Lys2413Arg
ENST00000262304.8:c.7238A>G	ENSP00000262304.4:p.Lys2413Arg
ENST00000415938.7:n.483A>G
ENST00000423118.5:c.7238A>G	ENSP00000399501.1:p.Lys2413Arg
ENST00000483024.1:c.406A>G
ENST00000483558.5:n.297A>G
ENST00000483731.5:n.963A>G
ENST00000486339.6:n.984A>G
ENST00000487932.5:c.1925A>G	ENSP00000457132.1:p.Lys642Arg
ENST00000496574.6:n.1241A>G
ENST00000565639.6:n.946A>G
ENST00000568591.5:c.2399A>G	ENSP00000457162.1:n.2399A>G
ENST00000569983.5:n.594A>G
NM_000296.3:c.7238A>G	NP_000287.3:p.Lys2413Arg
NM_001009944.2:c.7238A>G	NP_001009944.2:p.Lys2413Arg
XM_005255370.2:c.4193A>G	XP_005255427.1:p.Lys1398Arg
XM_011522525.1:c.7316A>G	XP_011520827.1:p.Lys2439Arg
XM_011522526.1:c.7316A>G	XP_011520828.1:p.Lys2439Arg
XM_011522527.1:c.7316A>G	XP_011520829.1:p.Lys2439Arg
XM_011522528.1:c.7292A>G	XP_011520830.1:p.Lys2431Arg
XM_011522529.1:c.7292A>G	XP_011520831.1:p.Lys2431Arg
XM_011522530.1:c.7262A>G	XP_011520832.1:p.Lys2421Arg
XM_011522531.1:c.7244A>G	XP_011520833.1:p.Lys2415Arg
XM_011522532.1:c.7190A>G	XP_011520834.1:p.Lys2397Arg
XM_011522533.1:c.7109A>G	XP_011520835.1:p.Lys2370Arg
XM_011522534.1:c.7052A>G	XP_011520836.1:p.Lys2351Arg
XM_011522535.1:c.5138A>G	XP_011520837.1:p.Lys1713Arg
XM_011522536.1:c.7316A>G	XP_011520838.1:p.Lys2439Arg
XM_011522537.1:c.4316A>G	XP_011520839.1:p.Lys1439Arg
XR_932867.1:n.7331A>G
XR_932868.1:n.7331A>G
XR_932869.1:n.7331A>G
XR_932870.1:n.7331A>G
XM_005255370.3:c.4193A>G	XP_005255427.1:p.Lys1398Arg
XM_011522528.3:c.7292A>G	XP_011520830.1:p.Lys2431Arg
XM_011522529.2:c.7292A>G	XP_011520831.1:p.Lys2431Arg
XM_011522537.2:c.4316A>G	XP_011520839.1:p.Lys1439Arg
XM_024450298.1:c.7358A>G	XP_024306066.1:p.Lys2453Arg
XM_024450299.1:c.7286A>G	XP_024306067.1:p.Lys2429Arg
XM_024450300.1:c.7148A>G	XP_024306068.1:p.Lys2383Arg
XM_024450301.1:c.5234A>G	XP_024306069.1:p.Lys1745Arg
NM_000296.4:c.7238A>G	NP_000287.4:p.Lys2413Arg
NM_001009944.3:c.7238A>G MANE Select	NP_001009944.3:p.Lys2413Arg