Canonical Allele Identifier: CA394325685

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140442C>G (hg19) ; chr16:g.2090441C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090441C>G , CM000678.2:g.2090441C>G	GRCh38
NC_000016.9:g.2140442C>G , CM000678.1:g.2140442C>G	GRCh37
NC_000016.8:g.2080443C>G	NCBI36
NG_005895.1:g.46136C>G , LRG_487:g.46136C>G
NG_008617.1:g.52780G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12288G>C MANE Select	ENSP00000262304.4:p.Trp4096Cys
ENST00000262304.8:c.12288G>C	ENSP00000262304.4:p.Trp4096Cys
ENST00000423118.5:c.12285G>C	ENSP00000399501.1:p.Trp4095Cys
ENST00000472577.1:n.316G>C
NM_000296.3:c.12285G>C	NP_000287.3:p.Trp4095Cys
NM_001009944.2:c.12288G>C	NP_001009944.2:p.Trp4096Cys
XM_005255370.2:c.9243G>C	XP_005255427.1:p.Trp3081Cys
XM_011522525.1:c.12366G>C	XP_011520827.1:p.Trp4122Cys
XM_011522526.1:c.12363G>C	XP_011520828.1:p.Trp4121Cys
XM_011522527.1:c.12348G>C	XP_011520829.1:p.Trp4116Cys
XM_011522528.1:c.12342G>C	XP_011520830.1:p.Trp4114Cys
XM_011522529.1:c.12339G>C	XP_011520831.1:p.Trp4113Cys
XM_011522530.1:c.12312G>C	XP_011520832.1:p.Trp4104Cys
XM_011522531.1:c.12294G>C	XP_011520833.1:p.Trp4098Cys
XM_011522532.1:c.12240G>C	XP_011520834.1:p.Trp4080Cys
XM_011522533.1:c.12159G>C	XP_011520835.1:p.Trp4053Cys
XM_011522534.1:c.12102G>C	XP_011520836.1:p.Trp4034Cys
XM_011522535.1:c.10188G>C	XP_011520837.1:p.Trp3396Cys
XM_011522537.1:c.9366G>C	XP_011520839.1:p.Trp3122Cys
XR_932867.1:n.12206G>C
XM_005255370.3:c.9243G>C	XP_005255427.1:p.Trp3081Cys
XM_011522528.3:c.12342G>C	XP_011520830.1:p.Trp4114Cys
XM_011522529.2:c.12339G>C	XP_011520831.1:p.Trp4113Cys
XM_011522537.2:c.9366G>C	XP_011520839.1:p.Trp3122Cys
XM_024450298.1:c.12408G>C	XP_024306066.1:p.Trp4136Cys
XM_024450299.1:c.12336G>C	XP_024306067.1:p.Trp4112Cys
XM_024450300.1:c.12198G>C	XP_024306068.1:p.Trp4066Cys
XM_024450301.1:c.10284G>C	XP_024306069.1:p.Trp3428Cys
NM_000296.4:c.12285G>C	NP_000287.4:p.Trp4095Cys
NM_001009944.3:c.12288G>C MANE Select	NP_001009944.3:p.Trp4096Cys