Canonical Allele Identifier: CA394370286

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106575-G-C
• MyVariant Identifiers: chr16:g.2156576G>C (hg19) ; chr16:g.2106575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106575G>C , CM000678.2:g.2106575G>C	GRCh38
NC_000016.9:g.2156576G>C , CM000678.1:g.2156576G>C	GRCh37
NC_000016.8:g.2096577G>C	NCBI36
NG_008617.1:g.34324C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7312C>G MANE Select	ENSP00000262304.4:p.Leu2438Val
ENST00000262304.8:c.7312C>G	ENSP00000262304.4:p.Leu2438Val
ENST00000415938.7:n.557C>G
ENST00000423118.5:c.7312C>G	ENSP00000399501.1:p.Leu2438Val
ENST00000483558.5:n.371C>G
ENST00000483731.5:n.1037C>G
ENST00000486339.6:n.1058C>G
ENST00000487932.5:c.1999C>G	ENSP00000457132.1:p.Leu667Val
ENST00000496574.6:n.1315C>G
ENST00000565639.6:n.1020C>G
ENST00000568591.5:c.2473C>G	ENSP00000457162.1:n.2473C>G
ENST00000569983.5:n.668C>G
NM_000296.3:c.7312C>G	NP_000287.3:p.Leu2438Val
NM_001009944.2:c.7312C>G	NP_001009944.2:p.Leu2438Val
XM_005255370.2:c.4267C>G	XP_005255427.1:p.Leu1423Val
XM_011522525.1:c.7390C>G	XP_011520827.1:p.Leu2464Val
XM_011522526.1:c.7390C>G	XP_011520828.1:p.Leu2464Val
XM_011522527.1:c.7390C>G	XP_011520829.1:p.Leu2464Val
XM_011522528.1:c.7366C>G	XP_011520830.1:p.Leu2456Val
XM_011522529.1:c.7366C>G	XP_011520831.1:p.Leu2456Val
XM_011522530.1:c.7336C>G	XP_011520832.1:p.Leu2446Val
XM_011522531.1:c.7318C>G	XP_011520833.1:p.Leu2440Val
XM_011522532.1:c.7264C>G	XP_011520834.1:p.Leu2422Val
XM_011522533.1:c.7183C>G	XP_011520835.1:p.Leu2395Val
XM_011522534.1:c.7126C>G	XP_011520836.1:p.Leu2376Val
XM_011522535.1:c.5212C>G	XP_011520837.1:p.Leu1738Val
XM_011522536.1:c.7390C>G	XP_011520838.1:p.Leu2464Val
XM_011522537.1:c.4390C>G	XP_011520839.1:p.Leu1464Val
XR_932867.1:n.7405C>G
XR_932868.1:n.7405C>G
XR_932869.1:n.7405C>G
XR_932870.1:n.7405C>G
XM_005255370.3:c.4267C>G	XP_005255427.1:p.Leu1423Val
XM_011522528.3:c.7366C>G	XP_011520830.1:p.Leu2456Val
XM_011522529.2:c.7366C>G	XP_011520831.1:p.Leu2456Val
XM_011522537.2:c.4390C>G	XP_011520839.1:p.Leu1464Val
XM_024450298.1:c.7432C>G	XP_024306066.1:p.Leu2478Val
XM_024450299.1:c.7360C>G	XP_024306067.1:p.Leu2454Val
XM_024450300.1:c.7222C>G	XP_024306068.1:p.Leu2408Val
XM_024450301.1:c.5308C>G	XP_024306069.1:p.Leu1770Val
NM_000296.4:c.7312C>G	NP_000287.4:p.Leu2438Val
NM_001009944.3:c.7312C>G MANE Select	NP_001009944.3:p.Leu2438Val