Canonical Allele Identifier: CA394370057

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156536A>T (hg19) ; chr16:g.2106535A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106535A>T , CM000678.2:g.2106535A>T	GRCh38
NC_000016.9:g.2156536A>T , CM000678.1:g.2156536A>T	GRCh37
NC_000016.8:g.2096537A>T	NCBI36
NG_008617.1:g.34364T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7352T>A MANE Select	ENSP00000262304.4:p.Leu2451Gln
ENST00000262304.8:c.7352T>A	ENSP00000262304.4:p.Leu2451Gln
ENST00000415938.7:n.597T>A
ENST00000423118.5:c.7352T>A	ENSP00000399501.1:p.Leu2451Gln
ENST00000483558.5:n.411T>A
ENST00000483731.5:n.1077T>A
ENST00000486339.6:n.1098T>A
ENST00000487932.5:c.2039T>A	ENSP00000457132.1:p.Leu680Gln
ENST00000496574.6:n.1355T>A
ENST00000565639.6:n.1060T>A
ENST00000568591.5:c.2513T>A	ENSP00000457162.1:n.2513T>A
ENST00000569983.5:n.708T>A
NM_000296.3:c.7352T>A	NP_000287.3:p.Leu2451Gln
NM_001009944.2:c.7352T>A	NP_001009944.2:p.Leu2451Gln
XM_005255370.2:c.4307T>A	XP_005255427.1:p.Leu1436Gln
XM_011522525.1:c.7430T>A	XP_011520827.1:p.Leu2477Gln
XM_011522526.1:c.7430T>A	XP_011520828.1:p.Leu2477Gln
XM_011522527.1:c.7430T>A	XP_011520829.1:p.Leu2477Gln
XM_011522528.1:c.7406T>A	XP_011520830.1:p.Leu2469Gln
XM_011522529.1:c.7406T>A	XP_011520831.1:p.Leu2469Gln
XM_011522530.1:c.7376T>A	XP_011520832.1:p.Leu2459Gln
XM_011522531.1:c.7358T>A	XP_011520833.1:p.Leu2453Gln
XM_011522532.1:c.7304T>A	XP_011520834.1:p.Leu2435Gln
XM_011522533.1:c.7223T>A	XP_011520835.1:p.Leu2408Gln
XM_011522534.1:c.7166T>A	XP_011520836.1:p.Leu2389Gln
XM_011522535.1:c.5252T>A	XP_011520837.1:p.Leu1751Gln
XM_011522536.1:c.7430T>A	XP_011520838.1:p.Leu2477Gln
XM_011522537.1:c.4430T>A	XP_011520839.1:p.Leu1477Gln
XR_932867.1:n.7445T>A
XR_932868.1:n.7445T>A
XR_932869.1:n.7445T>A
XR_932870.1:n.7445T>A
XM_005255370.3:c.4307T>A	XP_005255427.1:p.Leu1436Gln
XM_011522528.3:c.7406T>A	XP_011520830.1:p.Leu2469Gln
XM_011522529.2:c.7406T>A	XP_011520831.1:p.Leu2469Gln
XM_011522537.2:c.4430T>A	XP_011520839.1:p.Leu1477Gln
XM_024450298.1:c.7472T>A	XP_024306066.1:p.Leu2491Gln
XM_024450299.1:c.7400T>A	XP_024306067.1:p.Leu2467Gln
XM_024450300.1:c.7262T>A	XP_024306068.1:p.Leu2421Gln
XM_024450301.1:c.5348T>A	XP_024306069.1:p.Leu1783Gln
NM_000296.4:c.7352T>A	NP_000287.4:p.Leu2451Gln
NM_001009944.3:c.7352T>A MANE Select	NP_001009944.3:p.Leu2451Gln