Canonical Allele Identifier: CA394371125

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106637-A-G
• MyVariant Identifiers: chr16:g.2156638A>G (hg19) ; chr16:g.2106637A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7250T>C MANE Select	ENSP00000262304.4:p.Leu2417Pro
ENST00000262304.8:c.7250T>C	ENSP00000262304.4:p.Leu2417Pro
ENST00000415938.7:n.495T>C
ENST00000423118.5:c.7250T>C	ENSP00000399501.1:p.Leu2417Pro
ENST00000483024.1:c.418T>C
ENST00000483558.5:n.309T>C
ENST00000483731.5:n.975T>C
ENST00000486339.6:n.996T>C
ENST00000487932.5:c.1937T>C	ENSP00000457132.1:p.Leu646Pro
ENST00000496574.6:n.1253T>C
ENST00000565639.6:n.958T>C
ENST00000568591.5:c.2411T>C	ENSP00000457162.1:n.2411T>C
ENST00000569983.5:n.606T>C
NM_000296.3:c.7250T>C	NP_000287.3:p.Leu2417Pro
NM_001009944.2:c.7250T>C	NP_001009944.2:p.Leu2417Pro
XM_005255370.2:c.4205T>C	XP_005255427.1:p.Leu1402Pro
XM_011522525.1:c.7328T>C	XP_011520827.1:p.Leu2443Pro
XM_011522526.1:c.7328T>C	XP_011520828.1:p.Leu2443Pro
XM_011522527.1:c.7328T>C	XP_011520829.1:p.Leu2443Pro
XM_011522528.1:c.7304T>C	XP_011520830.1:p.Leu2435Pro
XM_011522529.1:c.7304T>C	XP_011520831.1:p.Leu2435Pro
XM_011522530.1:c.7274T>C	XP_011520832.1:p.Leu2425Pro
XM_011522531.1:c.7256T>C	XP_011520833.1:p.Leu2419Pro
XM_011522532.1:c.7202T>C	XP_011520834.1:p.Leu2401Pro
XM_011522533.1:c.7121T>C	XP_011520835.1:p.Leu2374Pro
XM_011522534.1:c.7064T>C	XP_011520836.1:p.Leu2355Pro
XM_011522535.1:c.5150T>C	XP_011520837.1:p.Leu1717Pro
XM_011522536.1:c.7328T>C	XP_011520838.1:p.Leu2443Pro
XM_011522537.1:c.4328T>C	XP_011520839.1:p.Leu1443Pro
XR_932867.1:n.7343T>C
XR_932868.1:n.7343T>C
XR_932869.1:n.7343T>C
XR_932870.1:n.7343T>C
XM_005255370.3:c.4205T>C	XP_005255427.1:p.Leu1402Pro
XM_011522528.3:c.7304T>C	XP_011520830.1:p.Leu2435Pro
XM_011522529.2:c.7304T>C	XP_011520831.1:p.Leu2435Pro
XM_011522537.2:c.4328T>C	XP_011520839.1:p.Leu1443Pro
XM_024450298.1:c.7370T>C	XP_024306066.1:p.Leu2457Pro
XM_024450299.1:c.7298T>C	XP_024306067.1:p.Leu2433Pro
XM_024450300.1:c.7160T>C	XP_024306068.1:p.Leu2387Pro
XM_024450301.1:c.5246T>C	XP_024306069.1:p.Leu1749Pro
NM_000296.4:c.7250T>C	NP_000287.4:p.Leu2417Pro
NM_001009944.3:c.7250T>C MANE Select	NP_001009944.3:p.Leu2417Pro