Canonical Allele Identifier: CA394369987

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106519-C-A
• MyVariant Identifiers: chr16:g.2156520C>A (hg19) ; chr16:g.2106519C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106519C>A , CM000678.2:g.2106519C>A	GRCh38
NC_000016.9:g.2156520C>A , CM000678.1:g.2156520C>A	GRCh37
NC_000016.8:g.2096521C>A	NCBI36
NG_008617.1:g.34380G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7368G>T MANE Select	ENSP00000262304.4:p.Glu2456Asp
ENST00000262304.8:c.7368G>T	ENSP00000262304.4:p.Glu2456Asp
ENST00000415938.7:n.613G>T
ENST00000423118.5:c.7368G>T	ENSP00000399501.1:p.Glu2456Asp
ENST00000483558.5:n.427G>T
ENST00000483731.5:n.1093G>T
ENST00000486339.6:n.1114G>T
ENST00000487932.5:c.2055G>T	ENSP00000457132.1:p.Glu685Asp
ENST00000496574.6:n.1371G>T
ENST00000565639.6:n.1076G>T
ENST00000568591.5:c.2529G>T	ENSP00000457162.1:n.2529G>T
NM_000296.3:c.7368G>T	NP_000287.3:p.Glu2456Asp
NM_001009944.2:c.7368G>T	NP_001009944.2:p.Glu2456Asp
XM_005255370.2:c.4323G>T	XP_005255427.1:p.Glu1441Asp
XM_011522525.1:c.7446G>T	XP_011520827.1:p.Glu2482Asp
XM_011522526.1:c.7446G>T	XP_011520828.1:p.Glu2482Asp
XM_011522527.1:c.7446G>T	XP_011520829.1:p.Glu2482Asp
XM_011522528.1:c.7422G>T	XP_011520830.1:p.Glu2474Asp
XM_011522529.1:c.7422G>T	XP_011520831.1:p.Glu2474Asp
XM_011522530.1:c.7392G>T	XP_011520832.1:p.Glu2464Asp
XM_011522531.1:c.7374G>T	XP_011520833.1:p.Glu2458Asp
XM_011522532.1:c.7320G>T	XP_011520834.1:p.Glu2440Asp
XM_011522533.1:c.7239G>T	XP_011520835.1:p.Glu2413Asp
XM_011522534.1:c.7182G>T	XP_011520836.1:p.Glu2394Asp
XM_011522535.1:c.5268G>T	XP_011520837.1:p.Glu1756Asp
XM_011522536.1:c.7446G>T	XP_011520838.1:p.Glu2482Asp
XM_011522537.1:c.4446G>T	XP_011520839.1:p.Glu1482Asp
XR_932867.1:n.7461G>T
XR_932868.1:n.7461G>T
XR_932869.1:n.7461G>T
XR_932870.1:n.7461G>T
XM_005255370.3:c.4323G>T	XP_005255427.1:p.Glu1441Asp
XM_011522528.3:c.7422G>T	XP_011520830.1:p.Glu2474Asp
XM_011522529.2:c.7422G>T	XP_011520831.1:p.Glu2474Asp
XM_011522537.2:c.4446G>T	XP_011520839.1:p.Glu1482Asp
XM_024450298.1:c.7488G>T	XP_024306066.1:p.Glu2496Asp
XM_024450299.1:c.7416G>T	XP_024306067.1:p.Glu2472Asp
XM_024450300.1:c.7278G>T	XP_024306068.1:p.Glu2426Asp
XM_024450301.1:c.5364G>T	XP_024306069.1:p.Glu1788Asp
NM_000296.4:c.7368G>T	NP_000287.4:p.Glu2456Asp
NM_001009944.3:c.7368G>T MANE Select	NP_001009944.3:p.Glu2456Asp