Canonical Allele Identifier: CA394325362

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140400G>C (hg19) ; chr16:g.2090399G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090399G>C , CM000678.2:g.2090399G>C	GRCh38
NC_000016.9:g.2140400G>C , CM000678.1:g.2140400G>C	GRCh37
NC_000016.8:g.2080401G>C	NCBI36
NG_005895.1:g.46094G>C , LRG_487:g.46094G>C
NG_008617.1:g.52822C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12330C>G MANE Select	ENSP00000262304.4:p.Tyr4110Ter
ENST00000262304.8:c.12330C>G	ENSP00000262304.4:p.Tyr4110Ter
ENST00000423118.5:c.12327C>G	ENSP00000399501.1:p.Tyr4109Ter
ENST00000472577.1:n.358C>G
NM_000296.3:c.12327C>G	NP_000287.3:p.Tyr4109Ter
NM_001009944.2:c.12330C>G	NP_001009944.2:p.Tyr4110Ter
XM_005255370.2:c.9285C>G	XP_005255427.1:p.Tyr3095Ter
XM_011522525.1:c.12408C>G	XP_011520827.1:p.Tyr4136Ter
XM_011522526.1:c.12405C>G	XP_011520828.1:p.Tyr4135Ter
XM_011522527.1:c.12390C>G	XP_011520829.1:p.Tyr4130Ter
XM_011522528.1:c.12384C>G	XP_011520830.1:p.Tyr4128Ter
XM_011522529.1:c.12381C>G	XP_011520831.1:p.Tyr4127Ter
XM_011522530.1:c.12354C>G	XP_011520832.1:p.Tyr4118Ter
XM_011522531.1:c.12336C>G	XP_011520833.1:p.Tyr4112Ter
XM_011522532.1:c.12282C>G	XP_011520834.1:p.Tyr4094Ter
XM_011522533.1:c.12201C>G	XP_011520835.1:p.Tyr4067Ter
XM_011522534.1:c.12144C>G	XP_011520836.1:p.Tyr4048Ter
XM_011522535.1:c.10230C>G	XP_011520837.1:p.Tyr3410Ter
XM_011522537.1:c.9408C>G	XP_011520839.1:p.Tyr3136Ter
XR_932867.1:n.12248C>G
XM_005255370.3:c.9285C>G	XP_005255427.1:p.Tyr3095Ter
XM_011522528.3:c.12384C>G	XP_011520830.1:p.Tyr4128Ter
XM_011522529.2:c.12381C>G	XP_011520831.1:p.Tyr4127Ter
XM_011522537.2:c.9408C>G	XP_011520839.1:p.Tyr3136Ter
XM_024450298.1:c.12450C>G	XP_024306066.1:p.Tyr4150Ter
XM_024450299.1:c.12378C>G	XP_024306067.1:p.Tyr4126Ter
XM_024450300.1:c.12240C>G	XP_024306068.1:p.Tyr4080Ter
XM_024450301.1:c.10326C>G	XP_024306069.1:p.Tyr3442Ter
NM_000296.4:c.12327C>G	NP_000287.4:p.Tyr4109Ter
NM_001009944.3:c.12330C>G MANE Select	NP_001009944.3:p.Tyr4110Ter