Canonical Allele Identifier: CA394325183

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140381G>C (hg19) ; chr16:g.2090380G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090380G>C , CM000678.2:g.2090380G>C	GRCh38
NC_000016.9:g.2140381G>C , CM000678.1:g.2140381G>C	GRCh37
NC_000016.8:g.2080382G>C	NCBI36
NG_005895.1:g.46075G>C , LRG_487:g.46075G>C
NG_008617.1:g.52841C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12349C>G MANE Select	ENSP00000262304.4:p.Leu4117Val
ENST00000262304.8:c.12349C>G	ENSP00000262304.4:p.Leu4117Val
ENST00000423118.5:c.12346C>G	ENSP00000399501.1:p.Leu4116Val
ENST00000472577.1:n.377C>G
NM_000296.3:c.12346C>G	NP_000287.3:p.Leu4116Val
NM_001009944.2:c.12349C>G	NP_001009944.2:p.Leu4117Val
XM_005255370.2:c.9304C>G	XP_005255427.1:p.Leu3102Val
XM_011522525.1:c.12427C>G	XP_011520827.1:p.Leu4143Val
XM_011522526.1:c.12424C>G	XP_011520828.1:p.Leu4142Val
XM_011522527.1:c.12409C>G	XP_011520829.1:p.Leu4137Val
XM_011522528.1:c.12403C>G	XP_011520830.1:p.Leu4135Val
XM_011522529.1:c.12400C>G	XP_011520831.1:p.Leu4134Val
XM_011522530.1:c.12373C>G	XP_011520832.1:p.Leu4125Val
XM_011522531.1:c.12355C>G	XP_011520833.1:p.Leu4119Val
XM_011522532.1:c.12301C>G	XP_011520834.1:p.Leu4101Val
XM_011522533.1:c.12220C>G	XP_011520835.1:p.Leu4074Val
XM_011522534.1:c.12163C>G	XP_011520836.1:p.Leu4055Val
XM_011522535.1:c.10249C>G	XP_011520837.1:p.Leu3417Val
XM_011522537.1:c.9427C>G	XP_011520839.1:p.Leu3143Val
XR_932867.1:n.12267C>G
XM_005255370.3:c.9304C>G	XP_005255427.1:p.Leu3102Val
XM_011522528.3:c.12403C>G	XP_011520830.1:p.Leu4135Val
XM_011522529.2:c.12400C>G	XP_011520831.1:p.Leu4134Val
XM_011522537.2:c.9427C>G	XP_011520839.1:p.Leu3143Val
XM_024450298.1:c.12469C>G	XP_024306066.1:p.Leu4157Val
XM_024450299.1:c.12397C>G	XP_024306067.1:p.Leu4133Val
XM_024450300.1:c.12259C>G	XP_024306068.1:p.Leu4087Val
XM_024450301.1:c.10345C>G	XP_024306069.1:p.Leu3449Val
NM_000296.4:c.12346C>G	NP_000287.4:p.Leu4116Val
NM_001009944.3:c.12349C>G MANE Select	NP_001009944.3:p.Leu4117Val