Canonical Allele Identifier: CA394325285

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140393A>T (hg19) ; chr16:g.2090392A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090392A>T , CM000678.2:g.2090392A>T	GRCh38
NC_000016.9:g.2140393A>T , CM000678.1:g.2140393A>T	GRCh37
NC_000016.8:g.2080394A>T	NCBI36
NG_005895.1:g.46087A>T , LRG_487:g.46087A>T
NG_008617.1:g.52829T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12337T>A MANE Select	ENSP00000262304.4:p.Leu4113Met
ENST00000262304.8:c.12337T>A	ENSP00000262304.4:p.Leu4113Met
ENST00000423118.5:c.12334T>A	ENSP00000399501.1:p.Leu4112Met
ENST00000472577.1:n.365T>A
NM_000296.3:c.12334T>A	NP_000287.3:p.Leu4112Met
NM_001009944.2:c.12337T>A	NP_001009944.2:p.Leu4113Met
XM_005255370.2:c.9292T>A	XP_005255427.1:p.Leu3098Met
XM_011522525.1:c.12415T>A	XP_011520827.1:p.Leu4139Met
XM_011522526.1:c.12412T>A	XP_011520828.1:p.Leu4138Met
XM_011522527.1:c.12397T>A	XP_011520829.1:p.Leu4133Met
XM_011522528.1:c.12391T>A	XP_011520830.1:p.Leu4131Met
XM_011522529.1:c.12388T>A	XP_011520831.1:p.Leu4130Met
XM_011522530.1:c.12361T>A	XP_011520832.1:p.Leu4121Met
XM_011522531.1:c.12343T>A	XP_011520833.1:p.Leu4115Met
XM_011522532.1:c.12289T>A	XP_011520834.1:p.Leu4097Met
XM_011522533.1:c.12208T>A	XP_011520835.1:p.Leu4070Met
XM_011522534.1:c.12151T>A	XP_011520836.1:p.Leu4051Met
XM_011522535.1:c.10237T>A	XP_011520837.1:p.Leu3413Met
XM_011522537.1:c.9415T>A	XP_011520839.1:p.Leu3139Met
XR_932867.1:n.12255T>A
XM_005255370.3:c.9292T>A	XP_005255427.1:p.Leu3098Met
XM_011522528.3:c.12391T>A	XP_011520830.1:p.Leu4131Met
XM_011522529.2:c.12388T>A	XP_011520831.1:p.Leu4130Met
XM_011522537.2:c.9415T>A	XP_011520839.1:p.Leu3139Met
XM_024450298.1:c.12457T>A	XP_024306066.1:p.Leu4153Met
XM_024450299.1:c.12385T>A	XP_024306067.1:p.Leu4129Met
XM_024450300.1:c.12247T>A	XP_024306068.1:p.Leu4083Met
XM_024450301.1:c.10333T>A	XP_024306069.1:p.Leu3445Met
NM_000296.4:c.12334T>A	NP_000287.4:p.Leu4112Met
NM_001009944.3:c.12337T>A MANE Select	NP_001009944.3:p.Leu4113Met