Canonical Allele Identifier: CA394371114

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156635T>G (hg19) ; chr16:g.2106634T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106634T>G , CM000678.2:g.2106634T>G	GRCh38
NC_000016.9:g.2156635T>G , CM000678.1:g.2156635T>G	GRCh37
NC_000016.8:g.2096636T>G	NCBI36
NG_008617.1:g.34265A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7253A>C MANE Select	ENSP00000262304.4:p.Asp2418Ala
ENST00000262304.8:c.7253A>C	ENSP00000262304.4:p.Asp2418Ala
ENST00000415938.7:n.498A>C
ENST00000423118.5:c.7253A>C	ENSP00000399501.1:p.Asp2418Ala
ENST00000483024.1:c.421A>C
ENST00000483558.5:n.312A>C
ENST00000483731.5:n.978A>C
ENST00000486339.6:n.999A>C
ENST00000487932.5:c.1940A>C	ENSP00000457132.1:p.Asp647Ala
ENST00000496574.6:n.1256A>C
ENST00000565639.6:n.961A>C
ENST00000568591.5:c.2414A>C	ENSP00000457162.1:n.2414A>C
ENST00000569983.5:n.609A>C
NM_000296.3:c.7253A>C	NP_000287.3:p.Asp2418Ala
NM_001009944.2:c.7253A>C	NP_001009944.2:p.Asp2418Ala
XM_005255370.2:c.4208A>C	XP_005255427.1:p.Asp1403Ala
XM_011522525.1:c.7331A>C	XP_011520827.1:p.Asp2444Ala
XM_011522526.1:c.7331A>C	XP_011520828.1:p.Asp2444Ala
XM_011522527.1:c.7331A>C	XP_011520829.1:p.Asp2444Ala
XM_011522528.1:c.7307A>C	XP_011520830.1:p.Asp2436Ala
XM_011522529.1:c.7307A>C	XP_011520831.1:p.Asp2436Ala
XM_011522530.1:c.7277A>C	XP_011520832.1:p.Asp2426Ala
XM_011522531.1:c.7259A>C	XP_011520833.1:p.Asp2420Ala
XM_011522532.1:c.7205A>C	XP_011520834.1:p.Asp2402Ala
XM_011522533.1:c.7124A>C	XP_011520835.1:p.Asp2375Ala
XM_011522534.1:c.7067A>C	XP_011520836.1:p.Asp2356Ala
XM_011522535.1:c.5153A>C	XP_011520837.1:p.Asp1718Ala
XM_011522536.1:c.7331A>C	XP_011520838.1:p.Asp2444Ala
XM_011522537.1:c.4331A>C	XP_011520839.1:p.Asp1444Ala
XR_932867.1:n.7346A>C
XR_932868.1:n.7346A>C
XR_932869.1:n.7346A>C
XR_932870.1:n.7346A>C
XM_005255370.3:c.4208A>C	XP_005255427.1:p.Asp1403Ala
XM_011522528.3:c.7307A>C	XP_011520830.1:p.Asp2436Ala
XM_011522529.2:c.7307A>C	XP_011520831.1:p.Asp2436Ala
XM_011522537.2:c.4331A>C	XP_011520839.1:p.Asp1444Ala
XM_024450298.1:c.7373A>C	XP_024306066.1:p.Asp2458Ala
XM_024450299.1:c.7301A>C	XP_024306067.1:p.Asp2434Ala
XM_024450300.1:c.7163A>C	XP_024306068.1:p.Asp2388Ala
XM_024450301.1:c.5249A>C	XP_024306069.1:p.Asp1750Ala
NM_000296.4:c.7253A>C	NP_000287.4:p.Asp2418Ala
NM_001009944.3:c.7253A>C MANE Select	NP_001009944.3:p.Asp2418Ala