Canonical Allele Identifier: CA493044525

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140460G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090459G>T , CM000678.2:g.2090459G>T	GRCh38
NC_000016.9:g.2140460G>T , CM000678.1:g.2140460G>T	GRCh37
NC_000016.8:g.2080461G>T	NCBI36
NG_005895.1:g.46154G>T , LRG_487:g.46154G>T
NG_008617.1:g.52762C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12270C>A MANE Select	ENSP00000262304.4:p.Leu4090=
ENST00000262304.8:c.12270C>A	ENSP00000262304.4:p.Leu4090=
ENST00000423118.5:c.12267C>A	ENSP00000399501.1:p.Leu4089=
ENST00000472577.1:n.298C>A
NM_000296.3:c.12267C>A	NP_000287.3:p.Leu4089=
NM_001009944.2:c.12270C>A	NP_001009944.2:p.Leu4090=
XM_005255370.2:c.9225C>A	XP_005255427.1:p.Leu3075=
XM_011522525.1:c.12348C>A	XP_011520827.1:p.Leu4116=
XM_011522526.1:c.12345C>A	XP_011520828.1:p.Leu4115=
XM_011522527.1:c.12330C>A	XP_011520829.1:p.Leu4110=
XM_011522528.1:c.12324C>A	XP_011520830.1:p.Leu4108=
XM_011522529.1:c.12321C>A	XP_011520831.1:p.Leu4107=
XM_011522530.1:c.12294C>A	XP_011520832.1:p.Leu4098=
XM_011522531.1:c.12276C>A	XP_011520833.1:p.Leu4092=
XM_011522532.1:c.12222C>A	XP_011520834.1:p.Leu4074=
XM_011522533.1:c.12141C>A	XP_011520835.1:p.Leu4047=
XM_011522534.1:c.12084C>A	XP_011520836.1:p.Leu4028=
XM_011522535.1:c.10170C>A	XP_011520837.1:p.Leu3390=
XM_011522537.1:c.9348C>A	XP_011520839.1:p.Leu3116=
XR_932867.1:n.12188C>A
XM_005255370.3:c.9225C>A	XP_005255427.1:p.Leu3075=
XM_011522528.3:c.12324C>A	XP_011520830.1:p.Leu4108=
XM_011522529.2:c.12321C>A	XP_011520831.1:p.Leu4107=
XM_011522537.2:c.9348C>A	XP_011520839.1:p.Leu3116=
XM_024450298.1:c.12390C>A	XP_024306066.1:p.Leu4130=
XM_024450299.1:c.12318C>A	XP_024306067.1:p.Leu4106=
XM_024450300.1:c.12180C>A	XP_024306068.1:p.Leu4060=
XM_024450301.1:c.10266C>A	XP_024306069.1:p.Leu3422=
NM_000296.4:c.12267C>A	NP_000287.4:p.Leu4089=
NM_001009944.3:c.12270C>A MANE Select	NP_001009944.3:p.Leu4090=