Canonical Allele Identifier: CA16621682

Gene: PKD1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2089956C>G , CM000678.2:g.2089956C>G	GRCh38
NC_000016.9:g.2139957C>G , CM000678.1:g.2139957C>G	GRCh37
NC_000016.8:g.2079958C>G	NCBI36
NG_005895.1:g.45651C>G , LRG_487:g.45651C>G
NG_008617.1:g.53265G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12683G>C MANE Select	ENSP00000262304.4:p.Arg4228Pro
ENST00000262304.8:c.12683G>C	ENSP00000262304.4:p.Arg4228Pro
ENST00000423118.5:c.12680G>C	ENSP00000399501.1:p.Arg4227Pro
ENST00000472577.1:n.711G>C
NM_000296.3:c.12680G>C	NP_000287.3:p.Arg4227Pro
NM_001009944.2:c.12683G>C	NP_001009944.2:p.Arg4228Pro
XM_005255370.2:c.9638G>C	XP_005255427.1:p.Arg3213Pro
XM_011522525.1:c.12761G>C	XP_011520827.1:p.Arg4254Pro
XM_011522526.1:c.12758G>C	XP_011520828.1:p.Arg4253Pro
XM_011522527.1:c.12743G>C	XP_011520829.1:p.Arg4248Pro
XM_011522528.1:c.12737G>C	XP_011520830.1:p.Arg4246Pro
XM_011522529.1:c.12734G>C	XP_011520831.1:p.Arg4245Pro
XM_011522530.1:c.12707G>C	XP_011520832.1:p.Arg4236Pro
XM_011522531.1:c.12689G>C	XP_011520833.1:p.Arg4230Pro
XM_011522532.1:c.12635G>C	XP_011520834.1:p.Arg4212Pro
XM_011522533.1:c.12554G>C	XP_011520835.1:p.Arg4185Pro
XM_011522534.1:c.12497G>C	XP_011520836.1:p.Arg4166Pro
XM_011522535.1:c.10583G>C	XP_011520837.1:p.Arg3528Pro
XM_011522537.1:c.9761G>C	XP_011520839.1:p.Arg3254Pro
XR_932867.1:n.12601G>C
XM_005255370.3:c.9638G>C	XP_005255427.1:p.Arg3213Pro
XM_011522528.3:c.12737G>C	XP_011520830.1:p.Arg4246Pro
XM_011522529.2:c.12734G>C	XP_011520831.1:p.Arg4245Pro
XM_011522537.2:c.9761G>C	XP_011520839.1:p.Arg3254Pro
XM_024450298.1:c.12803G>C	XP_024306066.1:p.Arg4268Pro
XM_024450299.1:c.12731G>C	XP_024306067.1:p.Arg4244Pro
XM_024450300.1:c.12593G>C	XP_024306068.1:p.Arg4198Pro
XM_024450301.1:c.10679G>C	XP_024306069.1:p.Arg3560Pro
NM_000296.4:c.12680G>C	NP_000287.4:p.Arg4227Pro
NM_001009944.3:c.12683G>C MANE Select	NP_001009944.3:p.Arg4228Pro