Canonical Allele Identifier: CA493044320

Gene: PKD1

Linked Data

• dbSNP Id: rs1596473427
• gnomAD v4: 16-2090384-T-C
• MyVariant Identifiers: chr16:g.2140385T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090384T>C , CM000678.2:g.2090384T>C	GRCh38
NC_000016.9:g.2140385T>C , CM000678.1:g.2140385T>C	GRCh37
NC_000016.8:g.2080386T>C	NCBI36
NG_005895.1:g.46079T>C , LRG_487:g.46079T>C
NG_008617.1:g.52837A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12345A>G MANE Select	ENSP00000262304.4:p.Gly4115=
ENST00000262304.8:c.12345A>G	ENSP00000262304.4:p.Gly4115=
ENST00000423118.5:c.12342A>G	ENSP00000399501.1:p.Gly4114=
ENST00000472577.1:n.373A>G
NM_000296.3:c.12342A>G	NP_000287.3:p.Gly4114=
NM_001009944.2:c.12345A>G	NP_001009944.2:p.Gly4115=
XM_005255370.2:c.9300A>G	XP_005255427.1:p.Gly3100=
XM_011522525.1:c.12423A>G	XP_011520827.1:p.Gly4141=
XM_011522526.1:c.12420A>G	XP_011520828.1:p.Gly4140=
XM_011522527.1:c.12405A>G	XP_011520829.1:p.Gly4135=
XM_011522528.1:c.12399A>G	XP_011520830.1:p.Gly4133=
XM_011522529.1:c.12396A>G	XP_011520831.1:p.Gly4132=
XM_011522530.1:c.12369A>G	XP_011520832.1:p.Gly4123=
XM_011522531.1:c.12351A>G	XP_011520833.1:p.Gly4117=
XM_011522532.1:c.12297A>G	XP_011520834.1:p.Gly4099=
XM_011522533.1:c.12216A>G	XP_011520835.1:p.Gly4072=
XM_011522534.1:c.12159A>G	XP_011520836.1:p.Gly4053=
XM_011522535.1:c.10245A>G	XP_011520837.1:p.Gly3415=
XM_011522537.1:c.9423A>G	XP_011520839.1:p.Gly3141=
XR_932867.1:n.12263A>G
XM_005255370.3:c.9300A>G	XP_005255427.1:p.Gly3100=
XM_011522528.3:c.12399A>G	XP_011520830.1:p.Gly4133=
XM_011522529.2:c.12396A>G	XP_011520831.1:p.Gly4132=
XM_011522537.2:c.9423A>G	XP_011520839.1:p.Gly3141=
XM_024450298.1:c.12465A>G	XP_024306066.1:p.Gly4155=
XM_024450299.1:c.12393A>G	XP_024306067.1:p.Gly4131=
XM_024450300.1:c.12255A>G	XP_024306068.1:p.Gly4085=
XM_024450301.1:c.10341A>G	XP_024306069.1:p.Gly3447=
NM_000296.4:c.12342A>G	NP_000287.4:p.Gly4114=
NM_001009944.3:c.12345A>G MANE Select	NP_001009944.3:p.Gly4115=