Canonical Allele Identifier: CA394325880

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140462G>C (hg19) ; chr16:g.2090461G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090461G>C , CM000678.2:g.2090461G>C	GRCh38
NC_000016.9:g.2140462G>C , CM000678.1:g.2140462G>C	GRCh37
NC_000016.8:g.2080463G>C	NCBI36
NG_005895.1:g.46156G>C , LRG_487:g.46156G>C
NG_008617.1:g.52760C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12268C>G MANE Select	ENSP00000262304.4:p.Leu4090Val
ENST00000262304.8:c.12268C>G	ENSP00000262304.4:p.Leu4090Val
ENST00000423118.5:c.12265C>G	ENSP00000399501.1:p.Leu4089Val
ENST00000472577.1:n.296C>G
NM_000296.3:c.12265C>G	NP_000287.3:p.Leu4089Val
NM_001009944.2:c.12268C>G	NP_001009944.2:p.Leu4090Val
XM_005255370.2:c.9223C>G	XP_005255427.1:p.Leu3075Val
XM_011522525.1:c.12346C>G	XP_011520827.1:p.Leu4116Val
XM_011522526.1:c.12343C>G	XP_011520828.1:p.Leu4115Val
XM_011522527.1:c.12328C>G	XP_011520829.1:p.Leu4110Val
XM_011522528.1:c.12322C>G	XP_011520830.1:p.Leu4108Val
XM_011522529.1:c.12319C>G	XP_011520831.1:p.Leu4107Val
XM_011522530.1:c.12292C>G	XP_011520832.1:p.Leu4098Val
XM_011522531.1:c.12274C>G	XP_011520833.1:p.Leu4092Val
XM_011522532.1:c.12220C>G	XP_011520834.1:p.Leu4074Val
XM_011522533.1:c.12139C>G	XP_011520835.1:p.Leu4047Val
XM_011522534.1:c.12082C>G	XP_011520836.1:p.Leu4028Val
XM_011522535.1:c.10168C>G	XP_011520837.1:p.Leu3390Val
XM_011522537.1:c.9346C>G	XP_011520839.1:p.Leu3116Val
XR_932867.1:n.12186C>G
XM_005255370.3:c.9223C>G	XP_005255427.1:p.Leu3075Val
XM_011522528.3:c.12322C>G	XP_011520830.1:p.Leu4108Val
XM_011522529.2:c.12319C>G	XP_011520831.1:p.Leu4107Val
XM_011522537.2:c.9346C>G	XP_011520839.1:p.Leu3116Val
XM_024450298.1:c.12388C>G	XP_024306066.1:p.Leu4130Val
XM_024450299.1:c.12316C>G	XP_024306067.1:p.Leu4106Val
XM_024450300.1:c.12178C>G	XP_024306068.1:p.Leu4060Val
XM_024450301.1:c.10264C>G	XP_024306069.1:p.Leu3422Val
NM_000296.4:c.12265C>G	NP_000287.4:p.Leu4089Val
NM_001009944.3:c.12268C>G MANE Select	NP_001009944.3:p.Leu4090Val