Canonical Allele Identifier: CA394325228

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140387C>G (hg19) ; chr16:g.2090386C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090386C>G , CM000678.2:g.2090386C>G	GRCh38
NC_000016.9:g.2140387C>G , CM000678.1:g.2140387C>G	GRCh37
NC_000016.8:g.2080388C>G	NCBI36
NG_005895.1:g.46081C>G , LRG_487:g.46081C>G
NG_008617.1:g.52835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12343G>C MANE Select	ENSP00000262304.4:p.Gly4115Arg
ENST00000262304.8:c.12343G>C	ENSP00000262304.4:p.Gly4115Arg
ENST00000423118.5:c.12340G>C	ENSP00000399501.1:p.Gly4114Arg
ENST00000472577.1:n.371G>C
NM_000296.3:c.12340G>C	NP_000287.3:p.Gly4114Arg
NM_001009944.2:c.12343G>C	NP_001009944.2:p.Gly4115Arg
XM_005255370.2:c.9298G>C	XP_005255427.1:p.Gly3100Arg
XM_011522525.1:c.12421G>C	XP_011520827.1:p.Gly4141Arg
XM_011522526.1:c.12418G>C	XP_011520828.1:p.Gly4140Arg
XM_011522527.1:c.12403G>C	XP_011520829.1:p.Gly4135Arg
XM_011522528.1:c.12397G>C	XP_011520830.1:p.Gly4133Arg
XM_011522529.1:c.12394G>C	XP_011520831.1:p.Gly4132Arg
XM_011522530.1:c.12367G>C	XP_011520832.1:p.Gly4123Arg
XM_011522531.1:c.12349G>C	XP_011520833.1:p.Gly4117Arg
XM_011522532.1:c.12295G>C	XP_011520834.1:p.Gly4099Arg
XM_011522533.1:c.12214G>C	XP_011520835.1:p.Gly4072Arg
XM_011522534.1:c.12157G>C	XP_011520836.1:p.Gly4053Arg
XM_011522535.1:c.10243G>C	XP_011520837.1:p.Gly3415Arg
XM_011522537.1:c.9421G>C	XP_011520839.1:p.Gly3141Arg
XR_932867.1:n.12261G>C
XM_005255370.3:c.9298G>C	XP_005255427.1:p.Gly3100Arg
XM_011522528.3:c.12397G>C	XP_011520830.1:p.Gly4133Arg
XM_011522529.2:c.12394G>C	XP_011520831.1:p.Gly4132Arg
XM_011522537.2:c.9421G>C	XP_011520839.1:p.Gly3141Arg
XM_024450298.1:c.12463G>C	XP_024306066.1:p.Gly4155Arg
XM_024450299.1:c.12391G>C	XP_024306067.1:p.Gly4131Arg
XM_024450300.1:c.12253G>C	XP_024306068.1:p.Gly4085Arg
XM_024450301.1:c.10339G>C	XP_024306069.1:p.Gly3447Arg
NM_000296.4:c.12340G>C	NP_000287.4:p.Gly4114Arg
NM_001009944.3:c.12343G>C MANE Select	NP_001009944.3:p.Gly4115Arg