Canonical Allele Identifier: CA394393501

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2167939C>A (hg19) ; chr16:g.2117938C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2117938C>A , CM000678.2:g.2117938C>A	GRCh38
NC_000016.9:g.2167939C>A , CM000678.1:g.2167939C>A	GRCh37
NC_000016.8:g.2107940C>A	NCBI36
NG_008617.1:g.22961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.1054G>T MANE Select	ENSP00000262304.4:p.Val352Leu
ENST00000262304.8:c.1054G>T	ENSP00000262304.4:p.Val352Leu
ENST00000423118.5:c.1054G>T	ENSP00000399501.1:p.Val352Leu
ENST00000488185.2:c.141G>T
ENST00000568591.5:c.22G>T	ENSP00000457162.1:p.Val8Leu
ENST00000570150.1:n.187G>T
NM_000296.3:c.1054G>T	NP_000287.3:p.Val352Leu
NM_001009944.2:c.1054G>T	NP_001009944.2:p.Val352Leu
XM_011522525.1:c.1108G>T	XP_011520827.1:p.Val370Leu
XM_011522526.1:c.1108G>T	XP_011520828.1:p.Val370Leu
XM_011522527.1:c.1108G>T	XP_011520829.1:p.Val370Leu
XM_011522528.1:c.1108G>T	XP_011520830.1:p.Val370Leu
XM_011522529.1:c.1108G>T	XP_011520831.1:p.Val370Leu
XM_011522530.1:c.1054G>T	XP_011520832.1:p.Val352Leu
XM_011522531.1:c.1036G>T	XP_011520833.1:p.Val346Leu
XM_011522532.1:c.982G>T	XP_011520834.1:p.Val328Leu
XM_011522533.1:c.901G>T	XP_011520835.1:p.Val301Leu
XM_011522534.1:c.844G>T	XP_011520836.1:p.Val282Leu
XM_011522536.1:c.1108G>T	XP_011520838.1:p.Val370Leu
XR_932867.1:n.1123G>T
XR_932868.1:n.1123G>T
XR_932869.1:n.1123G>T
XR_932870.1:n.1123G>T
XM_011522528.3:c.1108G>T	XP_011520830.1:p.Val370Leu
XM_011522529.2:c.1108G>T	XP_011520831.1:p.Val370Leu
XM_024450298.1:c.1054G>T	XP_024306066.1:p.Val352Leu
XM_024450299.1:c.982G>T	XP_024306067.1:p.Val328Leu
XM_024450300.1:c.844G>T	XP_024306068.1:p.Val282Leu
NM_000296.4:c.1054G>T	NP_000287.4:p.Val352Leu
NM_001009944.3:c.1054G>T MANE Select	NP_001009944.3:p.Val352Leu