Canonical Allele Identifier: CA394371107

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106633-A-C
• MyVariant Identifiers: chr16:g.2156634A>C (hg19) ; chr16:g.2106633A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106633A>C , CM000678.2:g.2106633A>C	GRCh38
NC_000016.9:g.2156634A>C , CM000678.1:g.2156634A>C	GRCh37
NC_000016.8:g.2096635A>C	NCBI36
NG_008617.1:g.34266T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7254T>G MANE Select	ENSP00000262304.4:p.Asp2418Glu
ENST00000262304.8:c.7254T>G	ENSP00000262304.4:p.Asp2418Glu
ENST00000415938.7:n.499T>G
ENST00000423118.5:c.7254T>G	ENSP00000399501.1:p.Asp2418Glu
ENST00000483024.1:c.422T>G
ENST00000483558.5:n.313T>G
ENST00000483731.5:n.979T>G
ENST00000486339.6:n.1000T>G
ENST00000487932.5:c.1941T>G	ENSP00000457132.1:p.Asp647Glu
ENST00000496574.6:n.1257T>G
ENST00000565639.6:n.962T>G
ENST00000568591.5:c.2415T>G	ENSP00000457162.1:n.2415T>G
ENST00000569983.5:n.610T>G
NM_000296.3:c.7254T>G	NP_000287.3:p.Asp2418Glu
NM_001009944.2:c.7254T>G	NP_001009944.2:p.Asp2418Glu
XM_005255370.2:c.4209T>G	XP_005255427.1:p.Asp1403Glu
XM_011522525.1:c.7332T>G	XP_011520827.1:p.Asp2444Glu
XM_011522526.1:c.7332T>G	XP_011520828.1:p.Asp2444Glu
XM_011522527.1:c.7332T>G	XP_011520829.1:p.Asp2444Glu
XM_011522528.1:c.7308T>G	XP_011520830.1:p.Asp2436Glu
XM_011522529.1:c.7308T>G	XP_011520831.1:p.Asp2436Glu
XM_011522530.1:c.7278T>G	XP_011520832.1:p.Asp2426Glu
XM_011522531.1:c.7260T>G	XP_011520833.1:p.Asp2420Glu
XM_011522532.1:c.7206T>G	XP_011520834.1:p.Asp2402Glu
XM_011522533.1:c.7125T>G	XP_011520835.1:p.Asp2375Glu
XM_011522534.1:c.7068T>G	XP_011520836.1:p.Asp2356Glu
XM_011522535.1:c.5154T>G	XP_011520837.1:p.Asp1718Glu
XM_011522536.1:c.7332T>G	XP_011520838.1:p.Asp2444Glu
XM_011522537.1:c.4332T>G	XP_011520839.1:p.Asp1444Glu
XR_932867.1:n.7347T>G
XR_932868.1:n.7347T>G
XR_932869.1:n.7347T>G
XR_932870.1:n.7347T>G
XM_005255370.3:c.4209T>G	XP_005255427.1:p.Asp1403Glu
XM_011522528.3:c.7308T>G	XP_011520830.1:p.Asp2436Glu
XM_011522529.2:c.7308T>G	XP_011520831.1:p.Asp2436Glu
XM_011522537.2:c.4332T>G	XP_011520839.1:p.Asp1444Glu
XM_024450298.1:c.7374T>G	XP_024306066.1:p.Asp2458Glu
XM_024450299.1:c.7302T>G	XP_024306067.1:p.Asp2434Glu
XM_024450300.1:c.7164T>G	XP_024306068.1:p.Asp2388Glu
XM_024450301.1:c.5250T>G	XP_024306069.1:p.Asp1750Glu
NM_000296.4:c.7254T>G	NP_000287.4:p.Asp2418Glu
NM_001009944.3:c.7254T>G MANE Select	NP_001009944.3:p.Asp2418Glu