Canonical Allele Identifier: CA493044282

Gene: PKD1

Linked Data

• dbSNP Id: rs1185124663
• MyVariant Identifiers: chr16:g.2140370C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090369C>G , CM000678.2:g.2090369C>G	GRCh38
NC_000016.9:g.2140370C>G , CM000678.1:g.2140370C>G	GRCh37
NC_000016.8:g.2080371C>G	NCBI36
NG_005895.1:g.46064C>G , LRG_487:g.46064C>G
NG_008617.1:g.52852G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12360G>C MANE Select	ENSP00000262304.4:p.Pro4120=
ENST00000262304.8:c.12360G>C	ENSP00000262304.4:p.Pro4120=
ENST00000423118.5:c.12357G>C	ENSP00000399501.1:p.Pro4119=
ENST00000472577.1:n.388G>C
NM_000296.3:c.12357G>C	NP_000287.3:p.Pro4119=
NM_001009944.2:c.12360G>C	NP_001009944.2:p.Pro4120=
XM_005255370.2:c.9315G>C	XP_005255427.1:p.Pro3105=
XM_011522525.1:c.12438G>C	XP_011520827.1:p.Pro4146=
XM_011522526.1:c.12435G>C	XP_011520828.1:p.Pro4145=
XM_011522527.1:c.12420G>C	XP_011520829.1:p.Pro4140=
XM_011522528.1:c.12414G>C	XP_011520830.1:p.Pro4138=
XM_011522529.1:c.12411G>C	XP_011520831.1:p.Pro4137=
XM_011522530.1:c.12384G>C	XP_011520832.1:p.Pro4128=
XM_011522531.1:c.12366G>C	XP_011520833.1:p.Pro4122=
XM_011522532.1:c.12312G>C	XP_011520834.1:p.Pro4104=
XM_011522533.1:c.12231G>C	XP_011520835.1:p.Pro4077=
XM_011522534.1:c.12174G>C	XP_011520836.1:p.Pro4058=
XM_011522535.1:c.10260G>C	XP_011520837.1:p.Pro3420=
XM_011522537.1:c.9438G>C	XP_011520839.1:p.Pro3146=
XR_932867.1:n.12278G>C
XM_005255370.3:c.9315G>C	XP_005255427.1:p.Pro3105=
XM_011522528.3:c.12414G>C	XP_011520830.1:p.Pro4138=
XM_011522529.2:c.12411G>C	XP_011520831.1:p.Pro4137=
XM_011522537.2:c.9438G>C	XP_011520839.1:p.Pro3146=
XM_024450298.1:c.12480G>C	XP_024306066.1:p.Pro4160=
XM_024450299.1:c.12408G>C	XP_024306067.1:p.Pro4136=
XM_024450300.1:c.12270G>C	XP_024306068.1:p.Pro4090=
XM_024450301.1:c.10356G>C	XP_024306069.1:p.Pro3452=
NM_000296.4:c.12357G>C	NP_000287.4:p.Pro4119=
NM_001009944.3:c.12360G>C MANE Select	NP_001009944.3:p.Pro4120=