Canonical Allele Identifier: CA493046698

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156514C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106513C>T , CM000678.2:g.2106513C>T	GRCh38
NC_000016.9:g.2156514C>T , CM000678.1:g.2156514C>T	GRCh37
NC_000016.8:g.2096515C>T	NCBI36
NG_008617.1:g.34386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7374G>A MANE Select	ENSP00000262304.4:p.Glu2458=
ENST00000262304.8:c.7374G>A	ENSP00000262304.4:p.Glu2458=
ENST00000415938.7:n.619G>A
ENST00000423118.5:c.7374G>A	ENSP00000399501.1:p.Glu2458=
ENST00000483558.5:n.433G>A
ENST00000483731.5:n.1099G>A
ENST00000486339.6:n.1120G>A
ENST00000487932.5:c.2061G>A	ENSP00000457132.1:p.Glu687=
ENST00000496574.6:n.1377G>A
ENST00000565639.6:n.1082G>A
ENST00000568591.5:c.2535G>A	ENSP00000457162.1:n.2535G>A
NM_000296.3:c.7374G>A	NP_000287.3:p.Glu2458=
NM_001009944.2:c.7374G>A	NP_001009944.2:p.Glu2458=
XM_005255370.2:c.4329G>A	XP_005255427.1:p.Glu1443=
XM_011522525.1:c.7452G>A	XP_011520827.1:p.Glu2484=
XM_011522526.1:c.7452G>A	XP_011520828.1:p.Glu2484=
XM_011522527.1:c.7452G>A	XP_011520829.1:p.Glu2484=
XM_011522528.1:c.7428G>A	XP_011520830.1:p.Glu2476=
XM_011522529.1:c.7428G>A	XP_011520831.1:p.Glu2476=
XM_011522530.1:c.7398G>A	XP_011520832.1:p.Glu2466=
XM_011522531.1:c.7380G>A	XP_011520833.1:p.Glu2460=
XM_011522532.1:c.7326G>A	XP_011520834.1:p.Glu2442=
XM_011522533.1:c.7245G>A	XP_011520835.1:p.Glu2415=
XM_011522534.1:c.7188G>A	XP_011520836.1:p.Glu2396=
XM_011522535.1:c.5274G>A	XP_011520837.1:p.Glu1758=
XM_011522536.1:c.7452G>A	XP_011520838.1:p.Glu2484=
XM_011522537.1:c.4452G>A	XP_011520839.1:p.Glu1484=
XR_932867.1:n.7467G>A
XR_932868.1:n.7467G>A
XR_932869.1:n.7467G>A
XR_932870.1:n.7467G>A
XM_005255370.3:c.4329G>A	XP_005255427.1:p.Glu1443=
XM_011522528.3:c.7428G>A	XP_011520830.1:p.Glu2476=
XM_011522529.2:c.7428G>A	XP_011520831.1:p.Glu2476=
XM_011522537.2:c.4452G>A	XP_011520839.1:p.Glu1484=
XM_024450298.1:c.7494G>A	XP_024306066.1:p.Glu2498=
XM_024450299.1:c.7422G>A	XP_024306067.1:p.Glu2474=
XM_024450300.1:c.7284G>A	XP_024306068.1:p.Glu2428=
XM_024450301.1:c.5370G>A	XP_024306069.1:p.Glu1790=
NM_000296.4:c.7374G>A	NP_000287.4:p.Glu2458=
NM_001009944.3:c.7374G>A MANE Select	NP_001009944.3:p.Glu2458=