Canonical Allele Identifier: CA394325686

Gene: PKD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12288G>A MANE Select	ENSP00000262304.4:p.Trp4096Ter
ENST00000262304.8:c.12288G>A	ENSP00000262304.4:p.Trp4096Ter
ENST00000423118.5:c.12285G>A	ENSP00000399501.1:p.Trp4095Ter
ENST00000472577.1:n.316G>A
NM_000296.3:c.12285G>A	NP_000287.3:p.Trp4095Ter
NM_001009944.2:c.12288G>A	NP_001009944.2:p.Trp4096Ter
XM_005255370.2:c.9243G>A	XP_005255427.1:p.Trp3081Ter
XM_011522525.1:c.12366G>A	XP_011520827.1:p.Trp4122Ter
XM_011522526.1:c.12363G>A	XP_011520828.1:p.Trp4121Ter
XM_011522527.1:c.12348G>A	XP_011520829.1:p.Trp4116Ter
XM_011522528.1:c.12342G>A	XP_011520830.1:p.Trp4114Ter
XM_011522529.1:c.12339G>A	XP_011520831.1:p.Trp4113Ter
XM_011522530.1:c.12312G>A	XP_011520832.1:p.Trp4104Ter
XM_011522531.1:c.12294G>A	XP_011520833.1:p.Trp4098Ter
XM_011522532.1:c.12240G>A	XP_011520834.1:p.Trp4080Ter
XM_011522533.1:c.12159G>A	XP_011520835.1:p.Trp4053Ter
XM_011522534.1:c.12102G>A	XP_011520836.1:p.Trp4034Ter
XM_011522535.1:c.10188G>A	XP_011520837.1:p.Trp3396Ter
XM_011522537.1:c.9366G>A	XP_011520839.1:p.Trp3122Ter
XR_932867.1:n.12206G>A
XM_005255370.3:c.9243G>A	XP_005255427.1:p.Trp3081Ter
XM_011522528.3:c.12342G>A	XP_011520830.1:p.Trp4114Ter
XM_011522529.2:c.12339G>A	XP_011520831.1:p.Trp4113Ter
XM_011522537.2:c.9366G>A	XP_011520839.1:p.Trp3122Ter
XM_024450298.1:c.12408G>A	XP_024306066.1:p.Trp4136Ter
XM_024450299.1:c.12336G>A	XP_024306067.1:p.Trp4112Ter
XM_024450300.1:c.12198G>A	XP_024306068.1:p.Trp4066Ter
XM_024450301.1:c.10284G>A	XP_024306069.1:p.Trp3428Ter
NM_000296.4:c.12285G>A	NP_000287.4:p.Trp4095Ter
NM_001009944.3:c.12288G>A MANE Select	NP_001009944.3:p.Trp4096Ter