Canonical Allele Identifier: CA394325149

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140376G>C (hg19) ; chr16:g.2090375G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090375G>C , CM000678.2:g.2090375G>C	GRCh38
NC_000016.9:g.2140376G>C , CM000678.1:g.2140376G>C	GRCh37
NC_000016.8:g.2080377G>C	NCBI36
NG_005895.1:g.46070G>C , LRG_487:g.46070G>C
NG_008617.1:g.52846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12354C>G MANE Select	ENSP00000262304.4:p.Tyr4118Ter
ENST00000262304.8:c.12354C>G	ENSP00000262304.4:p.Tyr4118Ter
ENST00000423118.5:c.12351C>G	ENSP00000399501.1:p.Tyr4117Ter
ENST00000472577.1:n.382C>G
NM_000296.3:c.12351C>G	NP_000287.3:p.Tyr4117Ter
NM_001009944.2:c.12354C>G	NP_001009944.2:p.Tyr4118Ter
XM_005255370.2:c.9309C>G	XP_005255427.1:p.Tyr3103Ter
XM_011522525.1:c.12432C>G	XP_011520827.1:p.Tyr4144Ter
XM_011522526.1:c.12429C>G	XP_011520828.1:p.Tyr4143Ter
XM_011522527.1:c.12414C>G	XP_011520829.1:p.Tyr4138Ter
XM_011522528.1:c.12408C>G	XP_011520830.1:p.Tyr4136Ter
XM_011522529.1:c.12405C>G	XP_011520831.1:p.Tyr4135Ter
XM_011522530.1:c.12378C>G	XP_011520832.1:p.Tyr4126Ter
XM_011522531.1:c.12360C>G	XP_011520833.1:p.Tyr4120Ter
XM_011522532.1:c.12306C>G	XP_011520834.1:p.Tyr4102Ter
XM_011522533.1:c.12225C>G	XP_011520835.1:p.Tyr4075Ter
XM_011522534.1:c.12168C>G	XP_011520836.1:p.Tyr4056Ter
XM_011522535.1:c.10254C>G	XP_011520837.1:p.Tyr3418Ter
XM_011522537.1:c.9432C>G	XP_011520839.1:p.Tyr3144Ter
XR_932867.1:n.12272C>G
XM_005255370.3:c.9309C>G	XP_005255427.1:p.Tyr3103Ter
XM_011522528.3:c.12408C>G	XP_011520830.1:p.Tyr4136Ter
XM_011522529.2:c.12405C>G	XP_011520831.1:p.Tyr4135Ter
XM_011522537.2:c.9432C>G	XP_011520839.1:p.Tyr3144Ter
XM_024450298.1:c.12474C>G	XP_024306066.1:p.Tyr4158Ter
XM_024450299.1:c.12402C>G	XP_024306067.1:p.Tyr4134Ter
XM_024450300.1:c.12264C>G	XP_024306068.1:p.Tyr4088Ter
XM_024450301.1:c.10350C>G	XP_024306069.1:p.Tyr3450Ter
NM_000296.4:c.12351C>G	NP_000287.4:p.Tyr4117Ter
NM_001009944.3:c.12354C>G MANE Select	NP_001009944.3:p.Tyr4118Ter