Canonical Allele Identifier: CA394371183

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156651T>A (hg19) ; chr16:g.2106650T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7237A>T MANE Select	ENSP00000262304.4:p.Lys2413Ter
ENST00000262304.8:c.7237A>T	ENSP00000262304.4:p.Lys2413Ter
ENST00000415938.7:n.482A>T
ENST00000423118.5:c.7237A>T	ENSP00000399501.1:p.Lys2413Ter
ENST00000483024.1:c.405A>T
ENST00000483558.5:n.296A>T
ENST00000483731.5:n.962A>T
ENST00000486339.6:n.983A>T
ENST00000487932.5:c.1924A>T	ENSP00000457132.1:p.Lys642Ter
ENST00000496574.6:n.1240A>T
ENST00000565639.6:n.945A>T
ENST00000568591.5:c.2398A>T	ENSP00000457162.1:n.2398A>T
ENST00000569983.5:n.593A>T
NM_000296.3:c.7237A>T	NP_000287.3:p.Lys2413Ter
NM_001009944.2:c.7237A>T	NP_001009944.2:p.Lys2413Ter
XM_005255370.2:c.4192A>T	XP_005255427.1:p.Lys1398Ter
XM_011522525.1:c.7315A>T	XP_011520827.1:p.Lys2439Ter
XM_011522526.1:c.7315A>T	XP_011520828.1:p.Lys2439Ter
XM_011522527.1:c.7315A>T	XP_011520829.1:p.Lys2439Ter
XM_011522528.1:c.7291A>T	XP_011520830.1:p.Lys2431Ter
XM_011522529.1:c.7291A>T	XP_011520831.1:p.Lys2431Ter
XM_011522530.1:c.7261A>T	XP_011520832.1:p.Lys2421Ter
XM_011522531.1:c.7243A>T	XP_011520833.1:p.Lys2415Ter
XM_011522532.1:c.7189A>T	XP_011520834.1:p.Lys2397Ter
XM_011522533.1:c.7108A>T	XP_011520835.1:p.Lys2370Ter
XM_011522534.1:c.7051A>T	XP_011520836.1:p.Lys2351Ter
XM_011522535.1:c.5137A>T	XP_011520837.1:p.Lys1713Ter
XM_011522536.1:c.7315A>T	XP_011520838.1:p.Lys2439Ter
XM_011522537.1:c.4315A>T	XP_011520839.1:p.Lys1439Ter
XR_932867.1:n.7330A>T
XR_932868.1:n.7330A>T
XR_932869.1:n.7330A>T
XR_932870.1:n.7330A>T
XM_005255370.3:c.4192A>T	XP_005255427.1:p.Lys1398Ter
XM_011522528.3:c.7291A>T	XP_011520830.1:p.Lys2431Ter
XM_011522529.2:c.7291A>T	XP_011520831.1:p.Lys2431Ter
XM_011522537.2:c.4315A>T	XP_011520839.1:p.Lys1439Ter
XM_024450298.1:c.7357A>T	XP_024306066.1:p.Lys2453Ter
XM_024450299.1:c.7285A>T	XP_024306067.1:p.Lys2429Ter
XM_024450300.1:c.7147A>T	XP_024306068.1:p.Lys2383Ter
XM_024450301.1:c.5233A>T	XP_024306069.1:p.Lys1745Ter
NM_000296.4:c.7237A>T	NP_000287.4:p.Lys2413Ter
NM_001009944.3:c.7237A>T MANE Select	NP_001009944.3:p.Lys2413Ter