Canonical Allele Identifier: CA7831158

Gene: PKD1

Linked Data

• dbSNP Id: rs765888509
• ExAC: 16:2156521 T / C
• gnomAD v2: 16-2156521-T-C
• gnomAD v3: 16-2106520-T-C
• gnomAD v4: 16-2106520-T-C
• MyVariant Identifiers: chr16:g.2156521T>C (hg19) ; chr16:g.2106520T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7367A>G MANE Select	ENSP00000262304.4:p.Glu2456Gly
ENST00000262304.8:c.7367A>G	ENSP00000262304.4:p.Glu2456Gly
ENST00000415938.7:n.612A>G
ENST00000423118.5:c.7367A>G	ENSP00000399501.1:p.Glu2456Gly
ENST00000483558.5:n.426A>G
ENST00000483731.5:n.1092A>G
ENST00000486339.6:n.1113A>G
ENST00000487932.5:c.2054A>G	ENSP00000457132.1:p.Glu685Gly
ENST00000496574.6:n.1370A>G
ENST00000565639.6:n.1075A>G
ENST00000568591.5:c.2528A>G	ENSP00000457162.1:n.2528A>G
NM_000296.3:c.7367A>G	NP_000287.3:p.Glu2456Gly
NM_001009944.2:c.7367A>G	NP_001009944.2:p.Glu2456Gly
XM_005255370.2:c.4322A>G	XP_005255427.1:p.Glu1441Gly
XM_011522525.1:c.7445A>G	XP_011520827.1:p.Glu2482Gly
XM_011522526.1:c.7445A>G	XP_011520828.1:p.Glu2482Gly
XM_011522527.1:c.7445A>G	XP_011520829.1:p.Glu2482Gly
XM_011522528.1:c.7421A>G	XP_011520830.1:p.Glu2474Gly
XM_011522529.1:c.7421A>G	XP_011520831.1:p.Glu2474Gly
XM_011522530.1:c.7391A>G	XP_011520832.1:p.Glu2464Gly
XM_011522531.1:c.7373A>G	XP_011520833.1:p.Glu2458Gly
XM_011522532.1:c.7319A>G	XP_011520834.1:p.Glu2440Gly
XM_011522533.1:c.7238A>G	XP_011520835.1:p.Glu2413Gly
XM_011522534.1:c.7181A>G	XP_011520836.1:p.Glu2394Gly
XM_011522535.1:c.5267A>G	XP_011520837.1:p.Glu1756Gly
XM_011522536.1:c.7445A>G	XP_011520838.1:p.Glu2482Gly
XM_011522537.1:c.4445A>G	XP_011520839.1:p.Glu1482Gly
XR_932867.1:n.7460A>G
XR_932868.1:n.7460A>G
XR_932869.1:n.7460A>G
XR_932870.1:n.7460A>G
XM_005255370.3:c.4322A>G	XP_005255427.1:p.Glu1441Gly
XM_011522528.3:c.7421A>G	XP_011520830.1:p.Glu2474Gly
XM_011522529.2:c.7421A>G	XP_011520831.1:p.Glu2474Gly
XM_011522537.2:c.4445A>G	XP_011520839.1:p.Glu1482Gly
XM_024450298.1:c.7487A>G	XP_024306066.1:p.Glu2496Gly
XM_024450299.1:c.7415A>G	XP_024306067.1:p.Glu2472Gly
XM_024450300.1:c.7277A>G	XP_024306068.1:p.Glu2426Gly
XM_024450301.1:c.5363A>G	XP_024306069.1:p.Glu1788Gly
NM_000296.4:c.7367A>G	NP_000287.4:p.Glu2456Gly
NM_001009944.3:c.7367A>G MANE Select	NP_001009944.3:p.Glu2456Gly