Canonical Allele Identifier: CA394371185

Gene: PKD1

Linked Data

• dbSNP Id: rs2092346549
• gnomAD v3: 16-2106650-T-C
• gnomAD v4: 16-2106650-T-C
• MyVariant Identifiers: chr16:g.2156651T>C (hg19) ; chr16:g.2106650T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106650T>C , CM000678.2:g.2106650T>C	GRCh38
NC_000016.9:g.2156651T>C , CM000678.1:g.2156651T>C	GRCh37
NC_000016.8:g.2096652T>C	NCBI36
NG_008617.1:g.34249A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7237A>G MANE Select	ENSP00000262304.4:p.Lys2413Glu
ENST00000262304.8:c.7237A>G	ENSP00000262304.4:p.Lys2413Glu
ENST00000415938.7:n.482A>G
ENST00000423118.5:c.7237A>G	ENSP00000399501.1:p.Lys2413Glu
ENST00000483024.1:c.405A>G
ENST00000483558.5:n.296A>G
ENST00000483731.5:n.962A>G
ENST00000486339.6:n.983A>G
ENST00000487932.5:c.1924A>G	ENSP00000457132.1:p.Lys642Glu
ENST00000496574.6:n.1240A>G
ENST00000565639.6:n.945A>G
ENST00000568591.5:c.2398A>G	ENSP00000457162.1:n.2398A>G
ENST00000569983.5:n.593A>G
NM_000296.3:c.7237A>G	NP_000287.3:p.Lys2413Glu
NM_001009944.2:c.7237A>G	NP_001009944.2:p.Lys2413Glu
XM_005255370.2:c.4192A>G	XP_005255427.1:p.Lys1398Glu
XM_011522525.1:c.7315A>G	XP_011520827.1:p.Lys2439Glu
XM_011522526.1:c.7315A>G	XP_011520828.1:p.Lys2439Glu
XM_011522527.1:c.7315A>G	XP_011520829.1:p.Lys2439Glu
XM_011522528.1:c.7291A>G	XP_011520830.1:p.Lys2431Glu
XM_011522529.1:c.7291A>G	XP_011520831.1:p.Lys2431Glu
XM_011522530.1:c.7261A>G	XP_011520832.1:p.Lys2421Glu
XM_011522531.1:c.7243A>G	XP_011520833.1:p.Lys2415Glu
XM_011522532.1:c.7189A>G	XP_011520834.1:p.Lys2397Glu
XM_011522533.1:c.7108A>G	XP_011520835.1:p.Lys2370Glu
XM_011522534.1:c.7051A>G	XP_011520836.1:p.Lys2351Glu
XM_011522535.1:c.5137A>G	XP_011520837.1:p.Lys1713Glu
XM_011522536.1:c.7315A>G	XP_011520838.1:p.Lys2439Glu
XM_011522537.1:c.4315A>G	XP_011520839.1:p.Lys1439Glu
XR_932867.1:n.7330A>G
XR_932868.1:n.7330A>G
XR_932869.1:n.7330A>G
XR_932870.1:n.7330A>G
XM_005255370.3:c.4192A>G	XP_005255427.1:p.Lys1398Glu
XM_011522528.3:c.7291A>G	XP_011520830.1:p.Lys2431Glu
XM_011522529.2:c.7291A>G	XP_011520831.1:p.Lys2431Glu
XM_011522537.2:c.4315A>G	XP_011520839.1:p.Lys1439Glu
XM_024450298.1:c.7357A>G	XP_024306066.1:p.Lys2453Glu
XM_024450299.1:c.7285A>G	XP_024306067.1:p.Lys2429Glu
XM_024450300.1:c.7147A>G	XP_024306068.1:p.Lys2383Glu
XM_024450301.1:c.5233A>G	XP_024306069.1:p.Lys1745Glu
NM_000296.4:c.7237A>G	NP_000287.4:p.Lys2413Glu
NM_001009944.3:c.7237A>G MANE Select	NP_001009944.3:p.Lys2413Glu