Canonical Allele Identifier: CA7831159

Gene: PKD1

Linked Data

• dbSNP Id: rs753238955
• ExAC: 16:2156522 C / T
• gnomAD v2: 16-2156522-C-T
• gnomAD v3: 16-2106521-C-T
• gnomAD v4: 16-2106521-C-T
• MyVariant Identifiers: chr16:g.2156522C>T (hg19) ; chr16:g.2106521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106521C>T , CM000678.2:g.2106521C>T	GRCh38
NC_000016.9:g.2156522C>T , CM000678.1:g.2156522C>T	GRCh37
NC_000016.8:g.2096523C>T	NCBI36
NG_008617.1:g.34378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7366G>A MANE Select	ENSP00000262304.4:p.Glu2456Lys
ENST00000262304.8:c.7366G>A	ENSP00000262304.4:p.Glu2456Lys
ENST00000415938.7:n.611G>A
ENST00000423118.5:c.7366G>A	ENSP00000399501.1:p.Glu2456Lys
ENST00000483558.5:n.425G>A
ENST00000483731.5:n.1091G>A
ENST00000486339.6:n.1112G>A
ENST00000487932.5:c.2053G>A	ENSP00000457132.1:p.Glu685Lys
ENST00000496574.6:n.1369G>A
ENST00000565639.6:n.1074G>A
ENST00000568591.5:c.2527G>A	ENSP00000457162.1:n.2527G>A
ENST00000569983.5:n.722G>A
NM_000296.3:c.7366G>A	NP_000287.3:p.Glu2456Lys
NM_001009944.2:c.7366G>A	NP_001009944.2:p.Glu2456Lys
XM_005255370.2:c.4321G>A	XP_005255427.1:p.Glu1441Lys
XM_011522525.1:c.7444G>A	XP_011520827.1:p.Glu2482Lys
XM_011522526.1:c.7444G>A	XP_011520828.1:p.Glu2482Lys
XM_011522527.1:c.7444G>A	XP_011520829.1:p.Glu2482Lys
XM_011522528.1:c.7420G>A	XP_011520830.1:p.Glu2474Lys
XM_011522529.1:c.7420G>A	XP_011520831.1:p.Glu2474Lys
XM_011522530.1:c.7390G>A	XP_011520832.1:p.Glu2464Lys
XM_011522531.1:c.7372G>A	XP_011520833.1:p.Glu2458Lys
XM_011522532.1:c.7318G>A	XP_011520834.1:p.Glu2440Lys
XM_011522533.1:c.7237G>A	XP_011520835.1:p.Glu2413Lys
XM_011522534.1:c.7180G>A	XP_011520836.1:p.Glu2394Lys
XM_011522535.1:c.5266G>A	XP_011520837.1:p.Glu1756Lys
XM_011522536.1:c.7444G>A	XP_011520838.1:p.Glu2482Lys
XM_011522537.1:c.4444G>A	XP_011520839.1:p.Glu1482Lys
XR_932867.1:n.7459G>A
XR_932868.1:n.7459G>A
XR_932869.1:n.7459G>A
XR_932870.1:n.7459G>A
XM_005255370.3:c.4321G>A	XP_005255427.1:p.Glu1441Lys
XM_011522528.3:c.7420G>A	XP_011520830.1:p.Glu2474Lys
XM_011522529.2:c.7420G>A	XP_011520831.1:p.Glu2474Lys
XM_011522537.2:c.4444G>A	XP_011520839.1:p.Glu1482Lys
XM_024450298.1:c.7486G>A	XP_024306066.1:p.Glu2496Lys
XM_024450299.1:c.7414G>A	XP_024306067.1:p.Glu2472Lys
XM_024450300.1:c.7276G>A	XP_024306068.1:p.Glu2426Lys
XM_024450301.1:c.5362G>A	XP_024306069.1:p.Glu1788Lys
NM_000296.4:c.7366G>A	NP_000287.4:p.Glu2456Lys
NM_001009944.3:c.7366G>A MANE Select	NP_001009944.3:p.Glu2456Lys