Canonical Allele Identifier: CA394370001

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106521-C-G
• MyVariant Identifiers: chr16:g.2156522C>G (hg19) ; chr16:g.2106521C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7366G>C MANE Select	ENSP00000262304.4:p.Glu2456Gln
ENST00000262304.8:c.7366G>C	ENSP00000262304.4:p.Glu2456Gln
ENST00000415938.7:n.611G>C
ENST00000423118.5:c.7366G>C	ENSP00000399501.1:p.Glu2456Gln
ENST00000483558.5:n.425G>C
ENST00000483731.5:n.1091G>C
ENST00000486339.6:n.1112G>C
ENST00000487932.5:c.2053G>C	ENSP00000457132.1:p.Glu685Gln
ENST00000496574.6:n.1369G>C
ENST00000565639.6:n.1074G>C
ENST00000568591.5:c.2527G>C	ENSP00000457162.1:n.2527G>C
ENST00000569983.5:n.722G>C
NM_000296.3:c.7366G>C	NP_000287.3:p.Glu2456Gln
NM_001009944.2:c.7366G>C	NP_001009944.2:p.Glu2456Gln
XM_005255370.2:c.4321G>C	XP_005255427.1:p.Glu1441Gln
XM_011522525.1:c.7444G>C	XP_011520827.1:p.Glu2482Gln
XM_011522526.1:c.7444G>C	XP_011520828.1:p.Glu2482Gln
XM_011522527.1:c.7444G>C	XP_011520829.1:p.Glu2482Gln
XM_011522528.1:c.7420G>C	XP_011520830.1:p.Glu2474Gln
XM_011522529.1:c.7420G>C	XP_011520831.1:p.Glu2474Gln
XM_011522530.1:c.7390G>C	XP_011520832.1:p.Glu2464Gln
XM_011522531.1:c.7372G>C	XP_011520833.1:p.Glu2458Gln
XM_011522532.1:c.7318G>C	XP_011520834.1:p.Glu2440Gln
XM_011522533.1:c.7237G>C	XP_011520835.1:p.Glu2413Gln
XM_011522534.1:c.7180G>C	XP_011520836.1:p.Glu2394Gln
XM_011522535.1:c.5266G>C	XP_011520837.1:p.Glu1756Gln
XM_011522536.1:c.7444G>C	XP_011520838.1:p.Glu2482Gln
XM_011522537.1:c.4444G>C	XP_011520839.1:p.Glu1482Gln
XR_932867.1:n.7459G>C
XR_932868.1:n.7459G>C
XR_932869.1:n.7459G>C
XR_932870.1:n.7459G>C
XM_005255370.3:c.4321G>C	XP_005255427.1:p.Glu1441Gln
XM_011522528.3:c.7420G>C	XP_011520830.1:p.Glu2474Gln
XM_011522529.2:c.7420G>C	XP_011520831.1:p.Glu2474Gln
XM_011522537.2:c.4444G>C	XP_011520839.1:p.Glu1482Gln
XM_024450298.1:c.7486G>C	XP_024306066.1:p.Glu2496Gln
XM_024450299.1:c.7414G>C	XP_024306067.1:p.Glu2472Gln
XM_024450300.1:c.7276G>C	XP_024306068.1:p.Glu2426Gln
XM_024450301.1:c.5362G>C	XP_024306069.1:p.Glu1788Gln
NM_000296.4:c.7366G>C	NP_000287.4:p.Glu2456Gln
NM_001009944.3:c.7366G>C MANE Select	NP_001009944.3:p.Glu2456Gln