Canonical Allele Identifier: CA394369996

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156521T>G (hg19) ; chr16:g.2106520T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106520T>G , CM000678.2:g.2106520T>G	GRCh38
NC_000016.9:g.2156521T>G , CM000678.1:g.2156521T>G	GRCh37
NC_000016.8:g.2096522T>G	NCBI36
NG_008617.1:g.34379A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7367A>C MANE Select	ENSP00000262304.4:p.Glu2456Ala
ENST00000262304.8:c.7367A>C	ENSP00000262304.4:p.Glu2456Ala
ENST00000415938.7:n.612A>C
ENST00000423118.5:c.7367A>C	ENSP00000399501.1:p.Glu2456Ala
ENST00000483558.5:n.426A>C
ENST00000483731.5:n.1092A>C
ENST00000486339.6:n.1113A>C
ENST00000487932.5:c.2054A>C	ENSP00000457132.1:p.Glu685Ala
ENST00000496574.6:n.1370A>C
ENST00000565639.6:n.1075A>C
ENST00000568591.5:c.2528A>C	ENSP00000457162.1:n.2528A>C
NM_000296.3:c.7367A>C	NP_000287.3:p.Glu2456Ala
NM_001009944.2:c.7367A>C	NP_001009944.2:p.Glu2456Ala
XM_005255370.2:c.4322A>C	XP_005255427.1:p.Glu1441Ala
XM_011522525.1:c.7445A>C	XP_011520827.1:p.Glu2482Ala
XM_011522526.1:c.7445A>C	XP_011520828.1:p.Glu2482Ala
XM_011522527.1:c.7445A>C	XP_011520829.1:p.Glu2482Ala
XM_011522528.1:c.7421A>C	XP_011520830.1:p.Glu2474Ala
XM_011522529.1:c.7421A>C	XP_011520831.1:p.Glu2474Ala
XM_011522530.1:c.7391A>C	XP_011520832.1:p.Glu2464Ala
XM_011522531.1:c.7373A>C	XP_011520833.1:p.Glu2458Ala
XM_011522532.1:c.7319A>C	XP_011520834.1:p.Glu2440Ala
XM_011522533.1:c.7238A>C	XP_011520835.1:p.Glu2413Ala
XM_011522534.1:c.7181A>C	XP_011520836.1:p.Glu2394Ala
XM_011522535.1:c.5267A>C	XP_011520837.1:p.Glu1756Ala
XM_011522536.1:c.7445A>C	XP_011520838.1:p.Glu2482Ala
XM_011522537.1:c.4445A>C	XP_011520839.1:p.Glu1482Ala
XR_932867.1:n.7460A>C
XR_932868.1:n.7460A>C
XR_932869.1:n.7460A>C
XR_932870.1:n.7460A>C
XM_005255370.3:c.4322A>C	XP_005255427.1:p.Glu1441Ala
XM_011522528.3:c.7421A>C	XP_011520830.1:p.Glu2474Ala
XM_011522529.2:c.7421A>C	XP_011520831.1:p.Glu2474Ala
XM_011522537.2:c.4445A>C	XP_011520839.1:p.Glu1482Ala
XM_024450298.1:c.7487A>C	XP_024306066.1:p.Glu2496Ala
XM_024450299.1:c.7415A>C	XP_024306067.1:p.Glu2472Ala
XM_024450300.1:c.7277A>C	XP_024306068.1:p.Glu2426Ala
XM_024450301.1:c.5363A>C	XP_024306069.1:p.Glu1788Ala
NM_000296.4:c.7367A>C	NP_000287.4:p.Glu2456Ala
NM_001009944.3:c.7367A>C MANE Select	NP_001009944.3:p.Glu2456Ala