Canonical Allele Identifier: CA394385768

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2113268C>T , CM000678.2:g.2113268C>T	GRCh38
NC_000016.9:g.2163269C>T , CM000678.1:g.2163269C>T	GRCh37
NC_000016.8:g.2103270C>T	NCBI36
NG_008617.1:g.27631G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.2878G>A MANE Select	NP_001009944.3:p.Gly960Ser
ENST00000262304.9:c.2878G>A MANE Select	ENSP00000262304.4:p.Gly960Ser
NM_000296.3:c.2878G>A	NP_000287.3:p.Gly960Ser
NM_000296.4:c.2878G>A	NP_000287.4:p.Gly960Ser
NM_001009944.2:c.2878G>A	NP_001009944.2:p.Gly960Ser
ENST00000262304.8:c.2878G>A	ENSP00000262304.4:p.Gly960Ser
ENST00000423118.5:c.2878G>A	ENSP00000399501.1:p.Gly960Ser
ENST00000468674.5:n.13G>A
ENST00000483731.5:n.373G>A
ENST00000488185.2:c.472+4221G>A
ENST00000565639.6:n.337G>A
ENST00000568591.5:c.1809G>A	ENSP00000457162.1:n.1809G>A
XM_005255370.3:c.-172G>A	XP_005255427.1:n.-172G>A
XM_011522525.1:c.2932G>A	XP_011520827.1:p.Gly978Ser
XM_011522526.1:c.2932G>A	XP_011520828.1:p.Gly978Ser
XM_011522527.1:c.2932G>A	XP_011520829.1:p.Gly978Ser
XM_011522528.1:c.2932G>A	XP_011520830.1:p.Gly978Ser
XM_011522528.3:c.2932G>A	XP_011520830.1:p.Gly978Ser
XM_011522529.1:c.2932G>A	XP_011520831.1:p.Gly978Ser
XM_011522529.2:c.2932G>A	XP_011520831.1:p.Gly978Ser
XM_011522530.1:c.2878G>A	XP_011520832.1:p.Gly960Ser
XM_011522531.1:c.2860G>A	XP_011520833.1:p.Gly954Ser
XM_011522532.1:c.2806G>A	XP_011520834.1:p.Gly936Ser
XM_011522533.1:c.2725G>A	XP_011520835.1:p.Gly909Ser
XM_011522534.1:c.2668G>A	XP_011520836.1:p.Gly890Ser
XM_011522535.1:c.754G>A	XP_011520837.1:p.Gly252Ser
XM_011522536.1:c.2932G>A	XP_011520838.1:p.Gly978Ser
XM_011522537.1:c.-70G>A	XP_011520839.1:n.-70G>A
XM_011522537.2:c.-70G>A	XP_011520839.1:n.-70G>A
XM_024450298.1:c.2878G>A	XP_024306066.1:p.Gly960Ser
XM_024450299.1:c.2806G>A	XP_024306067.1:p.Gly936Ser
XM_024450300.1:c.2668G>A	XP_024306068.1:p.Gly890Ser
XM_024450301.1:c.754G>A	XP_024306069.1:p.Gly252Ser
XR_932867.1:n.2947G>A
XR_932868.1:n.2947G>A
XR_932869.1:n.2947G>A
XR_932870.1:n.2947G>A