Canonical Allele Identifier: CA394324612

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090309C>G , CM000678.2:g.2090309C>G	GRCh38
NC_000016.9:g.2140310C>G , CM000678.1:g.2140310C>G	GRCh37
NC_000016.8:g.2080311C>G	NCBI36
NG_005895.1:g.46004C>G , LRG_487:g.46004C>G
NG_008617.1:g.52912G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.12420G>C MANE Select	NP_001009944.3:p.Trp4140Cys
ENST00000262304.9:c.12420G>C MANE Select	ENSP00000262304.4:p.Trp4140Cys
NM_000296.3:c.12417G>C	NP_000287.3:p.Trp4139Cys
NM_000296.4:c.12417G>C	NP_000287.4:p.Trp4139Cys
NM_001009944.2:c.12420G>C	NP_001009944.2:p.Trp4140Cys
ENST00000262304.8:c.12420G>C	ENSP00000262304.4:p.Trp4140Cys
ENST00000423118.5:c.12417G>C	ENSP00000399501.1:p.Trp4139Cys
ENST00000472577.1:n.448G>C
XM_005255370.2:c.9375G>C	XP_005255427.1:p.Trp3125Cys
XM_005255370.3:c.9375G>C	XP_005255427.1:p.Trp3125Cys
XM_011522525.1:c.12498G>C	XP_011520827.1:p.Trp4166Cys
XM_011522526.1:c.12495G>C	XP_011520828.1:p.Trp4165Cys
XM_011522527.1:c.12480G>C	XP_011520829.1:p.Trp4160Cys
XM_011522528.1:c.12474G>C	XP_011520830.1:p.Trp4158Cys
XM_011522528.3:c.12474G>C	XP_011520830.1:p.Trp4158Cys
XM_011522529.1:c.12471G>C	XP_011520831.1:p.Trp4157Cys
XM_011522529.2:c.12471G>C	XP_011520831.1:p.Trp4157Cys
XM_011522530.1:c.12444G>C	XP_011520832.1:p.Trp4148Cys
XM_011522531.1:c.12426G>C	XP_011520833.1:p.Trp4142Cys
XM_011522532.1:c.12372G>C	XP_011520834.1:p.Trp4124Cys
XM_011522533.1:c.12291G>C	XP_011520835.1:p.Trp4097Cys
XM_011522534.1:c.12234G>C	XP_011520836.1:p.Trp4078Cys
XM_011522535.1:c.10320G>C	XP_011520837.1:p.Trp3440Cys
XM_011522537.1:c.9498G>C	XP_011520839.1:p.Trp3166Cys
XM_011522537.2:c.9498G>C	XP_011520839.1:p.Trp3166Cys
XM_024450298.1:c.12540G>C	XP_024306066.1:p.Trp4180Cys
XM_024450299.1:c.12468G>C	XP_024306067.1:p.Trp4156Cys
XM_024450300.1:c.12330G>C	XP_024306068.1:p.Trp4110Cys
XM_024450301.1:c.10416G>C	XP_024306069.1:p.Trp3472Cys
XR_932867.1:n.12338G>C