Canonical Allele Identifier: CA394371117

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156636C>A (hg19) ; chr16:g.2106635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106635C>A , CM000678.2:g.2106635C>A	GRCh38
NC_000016.9:g.2156636C>A , CM000678.1:g.2156636C>A	GRCh37
NC_000016.8:g.2096637C>A	NCBI36
NG_008617.1:g.34264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7252G>T MANE Select	ENSP00000262304.4:p.Asp2418Tyr
ENST00000262304.8:c.7252G>T	ENSP00000262304.4:p.Asp2418Tyr
ENST00000415938.7:n.497G>T
ENST00000423118.5:c.7252G>T	ENSP00000399501.1:p.Asp2418Tyr
ENST00000483024.1:c.420G>T
ENST00000483558.5:n.311G>T
ENST00000483731.5:n.977G>T
ENST00000486339.6:n.998G>T
ENST00000487932.5:c.1939G>T	ENSP00000457132.1:p.Asp647Tyr
ENST00000496574.6:n.1255G>T
ENST00000565639.6:n.960G>T
ENST00000568591.5:c.2413G>T	ENSP00000457162.1:n.2413G>T
ENST00000569983.5:n.608G>T
NM_000296.3:c.7252G>T	NP_000287.3:p.Asp2418Tyr
NM_001009944.2:c.7252G>T	NP_001009944.2:p.Asp2418Tyr
XM_005255370.2:c.4207G>T	XP_005255427.1:p.Asp1403Tyr
XM_011522525.1:c.7330G>T	XP_011520827.1:p.Asp2444Tyr
XM_011522526.1:c.7330G>T	XP_011520828.1:p.Asp2444Tyr
XM_011522527.1:c.7330G>T	XP_011520829.1:p.Asp2444Tyr
XM_011522528.1:c.7306G>T	XP_011520830.1:p.Asp2436Tyr
XM_011522529.1:c.7306G>T	XP_011520831.1:p.Asp2436Tyr
XM_011522530.1:c.7276G>T	XP_011520832.1:p.Asp2426Tyr
XM_011522531.1:c.7258G>T	XP_011520833.1:p.Asp2420Tyr
XM_011522532.1:c.7204G>T	XP_011520834.1:p.Asp2402Tyr
XM_011522533.1:c.7123G>T	XP_011520835.1:p.Asp2375Tyr
XM_011522534.1:c.7066G>T	XP_011520836.1:p.Asp2356Tyr
XM_011522535.1:c.5152G>T	XP_011520837.1:p.Asp1718Tyr
XM_011522536.1:c.7330G>T	XP_011520838.1:p.Asp2444Tyr
XM_011522537.1:c.4330G>T	XP_011520839.1:p.Asp1444Tyr
XR_932867.1:n.7345G>T
XR_932868.1:n.7345G>T
XR_932869.1:n.7345G>T
XR_932870.1:n.7345G>T
XM_005255370.3:c.4207G>T	XP_005255427.1:p.Asp1403Tyr
XM_011522528.3:c.7306G>T	XP_011520830.1:p.Asp2436Tyr
XM_011522529.2:c.7306G>T	XP_011520831.1:p.Asp2436Tyr
XM_011522537.2:c.4330G>T	XP_011520839.1:p.Asp1444Tyr
XM_024450298.1:c.7372G>T	XP_024306066.1:p.Asp2458Tyr
XM_024450299.1:c.7300G>T	XP_024306067.1:p.Asp2434Tyr
XM_024450300.1:c.7162G>T	XP_024306068.1:p.Asp2388Tyr
XM_024450301.1:c.5248G>T	XP_024306069.1:p.Asp1750Tyr
NM_000296.4:c.7252G>T	NP_000287.4:p.Asp2418Tyr
NM_001009944.3:c.7252G>T MANE Select	NP_001009944.3:p.Asp2418Tyr