Canonical Allele Identifier: CA394393491

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2167935T>G (hg19) ; chr16:g.2117934T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2117934T>G , CM000678.2:g.2117934T>G	GRCh38
NC_000016.9:g.2167935T>G , CM000678.1:g.2167935T>G	GRCh37
NC_000016.8:g.2107936T>G	NCBI36
NG_008617.1:g.22965A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.1058A>C MANE Select	ENSP00000262304.4:p.Glu353Ala
ENST00000262304.8:c.1058A>C	ENSP00000262304.4:p.Glu353Ala
ENST00000423118.5:c.1058A>C	ENSP00000399501.1:p.Glu353Ala
ENST00000488185.2:c.145A>C
ENST00000568591.5:c.26A>C	ENSP00000457162.1:p.Glu9Ala
ENST00000570150.1:n.191A>C
NM_000296.3:c.1058A>C	NP_000287.3:p.Glu353Ala
NM_001009944.2:c.1058A>C	NP_001009944.2:p.Glu353Ala
XM_011522525.1:c.1112A>C	XP_011520827.1:p.Glu371Ala
XM_011522526.1:c.1112A>C	XP_011520828.1:p.Glu371Ala
XM_011522527.1:c.1112A>C	XP_011520829.1:p.Glu371Ala
XM_011522528.1:c.1112A>C	XP_011520830.1:p.Glu371Ala
XM_011522529.1:c.1112A>C	XP_011520831.1:p.Glu371Ala
XM_011522530.1:c.1058A>C	XP_011520832.1:p.Glu353Ala
XM_011522531.1:c.1040A>C	XP_011520833.1:p.Glu347Ala
XM_011522532.1:c.986A>C	XP_011520834.1:p.Glu329Ala
XM_011522533.1:c.905A>C	XP_011520835.1:p.Glu302Ala
XM_011522534.1:c.848A>C	XP_011520836.1:p.Glu283Ala
XM_011522536.1:c.1112A>C	XP_011520838.1:p.Glu371Ala
XR_932867.1:n.1127A>C
XR_932868.1:n.1127A>C
XR_932869.1:n.1127A>C
XR_932870.1:n.1127A>C
XM_011522528.3:c.1112A>C	XP_011520830.1:p.Glu371Ala
XM_011522529.2:c.1112A>C	XP_011520831.1:p.Glu371Ala
XM_024450298.1:c.1058A>C	XP_024306066.1:p.Glu353Ala
XM_024450299.1:c.986A>C	XP_024306067.1:p.Glu329Ala
XM_024450300.1:c.848A>C	XP_024306068.1:p.Glu283Ala
NM_000296.4:c.1058A>C	NP_000287.4:p.Glu353Ala
NM_001009944.3:c.1058A>C MANE Select	NP_001009944.3:p.Glu353Ala