Canonical Allele Identifier: CA394371127

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156638A>C (hg19) ; chr16:g.2106637A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106637A>C , CM000678.2:g.2106637A>C	GRCh38
NC_000016.9:g.2156638A>C , CM000678.1:g.2156638A>C	GRCh37
NC_000016.8:g.2096639A>C	NCBI36
NG_008617.1:g.34262T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7250T>G MANE Select	ENSP00000262304.4:p.Leu2417Arg
ENST00000262304.8:c.7250T>G	ENSP00000262304.4:p.Leu2417Arg
ENST00000415938.7:n.495T>G
ENST00000423118.5:c.7250T>G	ENSP00000399501.1:p.Leu2417Arg
ENST00000483024.1:c.418T>G
ENST00000483558.5:n.309T>G
ENST00000483731.5:n.975T>G
ENST00000486339.6:n.996T>G
ENST00000487932.5:c.1937T>G	ENSP00000457132.1:p.Leu646Arg
ENST00000496574.6:n.1253T>G
ENST00000565639.6:n.958T>G
ENST00000568591.5:c.2411T>G	ENSP00000457162.1:n.2411T>G
ENST00000569983.5:n.606T>G
NM_000296.3:c.7250T>G	NP_000287.3:p.Leu2417Arg
NM_001009944.2:c.7250T>G	NP_001009944.2:p.Leu2417Arg
XM_005255370.2:c.4205T>G	XP_005255427.1:p.Leu1402Arg
XM_011522525.1:c.7328T>G	XP_011520827.1:p.Leu2443Arg
XM_011522526.1:c.7328T>G	XP_011520828.1:p.Leu2443Arg
XM_011522527.1:c.7328T>G	XP_011520829.1:p.Leu2443Arg
XM_011522528.1:c.7304T>G	XP_011520830.1:p.Leu2435Arg
XM_011522529.1:c.7304T>G	XP_011520831.1:p.Leu2435Arg
XM_011522530.1:c.7274T>G	XP_011520832.1:p.Leu2425Arg
XM_011522531.1:c.7256T>G	XP_011520833.1:p.Leu2419Arg
XM_011522532.1:c.7202T>G	XP_011520834.1:p.Leu2401Arg
XM_011522533.1:c.7121T>G	XP_011520835.1:p.Leu2374Arg
XM_011522534.1:c.7064T>G	XP_011520836.1:p.Leu2355Arg
XM_011522535.1:c.5150T>G	XP_011520837.1:p.Leu1717Arg
XM_011522536.1:c.7328T>G	XP_011520838.1:p.Leu2443Arg
XM_011522537.1:c.4328T>G	XP_011520839.1:p.Leu1443Arg
XR_932867.1:n.7343T>G
XR_932868.1:n.7343T>G
XR_932869.1:n.7343T>G
XR_932870.1:n.7343T>G
XM_005255370.3:c.4205T>G	XP_005255427.1:p.Leu1402Arg
XM_011522528.3:c.7304T>G	XP_011520830.1:p.Leu2435Arg
XM_011522529.2:c.7304T>G	XP_011520831.1:p.Leu2435Arg
XM_011522537.2:c.4328T>G	XP_011520839.1:p.Leu1443Arg
XM_024450298.1:c.7370T>G	XP_024306066.1:p.Leu2457Arg
XM_024450299.1:c.7298T>G	XP_024306067.1:p.Leu2433Arg
XM_024450300.1:c.7160T>G	XP_024306068.1:p.Leu2387Arg
XM_024450301.1:c.5246T>G	XP_024306069.1:p.Leu1749Arg
NM_000296.4:c.7250T>G	NP_000287.4:p.Leu2417Arg
NM_001009944.3:c.7250T>G MANE Select	NP_001009944.3:p.Leu2417Arg