Canonical Allele Identifier: CA493044306

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140553G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090552G>C , CM000678.2:g.2090552G>C	GRCh38
NC_000016.9:g.2140553G>C , CM000678.1:g.2140553G>C	GRCh37
NC_000016.8:g.2080554G>C	NCBI36
NG_005895.1:g.46247G>C , LRG_487:g.46247G>C
NG_008617.1:g.52669C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12177C>G MANE Select	ENSP00000262304.4:p.Ala4059=
ENST00000262304.8:c.12177C>G	ENSP00000262304.4:p.Ala4059=
ENST00000423118.5:c.12174C>G	ENSP00000399501.1:p.Ala4058=
ENST00000472577.1:n.205C>G
NM_000296.3:c.12174C>G	NP_000287.3:p.Ala4058=
NM_001009944.2:c.12177C>G	NP_001009944.2:p.Ala4059=
XM_005255370.2:c.9132C>G	XP_005255427.1:p.Ala3044=
XM_011522525.1:c.12255C>G	XP_011520827.1:p.Ala4085=
XM_011522526.1:c.12252C>G	XP_011520828.1:p.Ala4084=
XM_011522527.1:c.12237C>G	XP_011520829.1:p.Ala4079=
XM_011522528.1:c.12231C>G	XP_011520830.1:p.Ala4077=
XM_011522529.1:c.12228C>G	XP_011520831.1:p.Ala4076=
XM_011522530.1:c.12201C>G	XP_011520832.1:p.Ala4067=
XM_011522531.1:c.12183C>G	XP_011520833.1:p.Ala4061=
XM_011522532.1:c.12129C>G	XP_011520834.1:p.Ala4043=
XM_011522533.1:c.12048C>G	XP_011520835.1:p.Ala4016=
XM_011522534.1:c.11991C>G	XP_011520836.1:p.Ala3997=
XM_011522535.1:c.10077C>G	XP_011520837.1:p.Ala3359=
XM_011522537.1:c.9255C>G	XP_011520839.1:p.Ala3085=
XR_932867.1:n.12095C>G
XM_005255370.3:c.9132C>G	XP_005255427.1:p.Ala3044=
XM_011522528.3:c.12231C>G	XP_011520830.1:p.Ala4077=
XM_011522529.2:c.12228C>G	XP_011520831.1:p.Ala4076=
XM_011522537.2:c.9255C>G	XP_011520839.1:p.Ala3085=
XM_024450298.1:c.12297C>G	XP_024306066.1:p.Ala4099=
XM_024450299.1:c.12225C>G	XP_024306067.1:p.Ala4075=
XM_024450300.1:c.12087C>G	XP_024306068.1:p.Ala4029=
XM_024450301.1:c.10173C>G	XP_024306069.1:p.Ala3391=
NM_000296.4:c.12174C>G	NP_000287.4:p.Ala4058=
NM_001009944.3:c.12177C>G MANE Select	NP_001009944.3:p.Ala4059=