Canonical Allele Identifier: CA394371147

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156644A>C (hg19) ; chr16:g.2106643A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106643A>C , CM000678.2:g.2106643A>C	GRCh38
NC_000016.9:g.2156644A>C , CM000678.1:g.2156644A>C	GRCh37
NC_000016.8:g.2096645A>C	NCBI36
NG_008617.1:g.34256T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7244T>G MANE Select	ENSP00000262304.4:p.Leu2415Arg
ENST00000262304.8:c.7244T>G	ENSP00000262304.4:p.Leu2415Arg
ENST00000415938.7:n.489T>G
ENST00000423118.5:c.7244T>G	ENSP00000399501.1:p.Leu2415Arg
ENST00000483024.1:c.412T>G
ENST00000483558.5:n.303T>G
ENST00000483731.5:n.969T>G
ENST00000486339.6:n.990T>G
ENST00000487932.5:c.1931T>G	ENSP00000457132.1:p.Leu644Arg
ENST00000496574.6:n.1247T>G
ENST00000565639.6:n.952T>G
ENST00000568591.5:c.2405T>G	ENSP00000457162.1:n.2405T>G
ENST00000569983.5:n.600T>G
NM_000296.3:c.7244T>G	NP_000287.3:p.Leu2415Arg
NM_001009944.2:c.7244T>G	NP_001009944.2:p.Leu2415Arg
XM_005255370.2:c.4199T>G	XP_005255427.1:p.Leu1400Arg
XM_011522525.1:c.7322T>G	XP_011520827.1:p.Leu2441Arg
XM_011522526.1:c.7322T>G	XP_011520828.1:p.Leu2441Arg
XM_011522527.1:c.7322T>G	XP_011520829.1:p.Leu2441Arg
XM_011522528.1:c.7298T>G	XP_011520830.1:p.Leu2433Arg
XM_011522529.1:c.7298T>G	XP_011520831.1:p.Leu2433Arg
XM_011522530.1:c.7268T>G	XP_011520832.1:p.Leu2423Arg
XM_011522531.1:c.7250T>G	XP_011520833.1:p.Leu2417Arg
XM_011522532.1:c.7196T>G	XP_011520834.1:p.Leu2399Arg
XM_011522533.1:c.7115T>G	XP_011520835.1:p.Leu2372Arg
XM_011522534.1:c.7058T>G	XP_011520836.1:p.Leu2353Arg
XM_011522535.1:c.5144T>G	XP_011520837.1:p.Leu1715Arg
XM_011522536.1:c.7322T>G	XP_011520838.1:p.Leu2441Arg
XM_011522537.1:c.4322T>G	XP_011520839.1:p.Leu1441Arg
XR_932867.1:n.7337T>G
XR_932868.1:n.7337T>G
XR_932869.1:n.7337T>G
XR_932870.1:n.7337T>G
XM_005255370.3:c.4199T>G	XP_005255427.1:p.Leu1400Arg
XM_011522528.3:c.7298T>G	XP_011520830.1:p.Leu2433Arg
XM_011522529.2:c.7298T>G	XP_011520831.1:p.Leu2433Arg
XM_011522537.2:c.4322T>G	XP_011520839.1:p.Leu1441Arg
XM_024450298.1:c.7364T>G	XP_024306066.1:p.Leu2455Arg
XM_024450299.1:c.7292T>G	XP_024306067.1:p.Leu2431Arg
XM_024450300.1:c.7154T>G	XP_024306068.1:p.Leu2385Arg
XM_024450301.1:c.5240T>G	XP_024306069.1:p.Leu1747Arg
NM_000296.4:c.7244T>G	NP_000287.4:p.Leu2415Arg
NM_001009944.3:c.7244T>G MANE Select	NP_001009944.3:p.Leu2415Arg