Canonical Allele Identifier: CA493044498

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140451C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090450C>T , CM000678.2:g.2090450C>T	GRCh38
NC_000016.9:g.2140451C>T , CM000678.1:g.2140451C>T	GRCh37
NC_000016.8:g.2080452C>T	NCBI36
NG_005895.1:g.46145C>T , LRG_487:g.46145C>T
NG_008617.1:g.52771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12279G>A MANE Select	ENSP00000262304.4:p.Leu4093=
ENST00000262304.8:c.12279G>A	ENSP00000262304.4:p.Leu4093=
ENST00000423118.5:c.12276G>A	ENSP00000399501.1:p.Leu4092=
ENST00000472577.1:n.307G>A
NM_000296.3:c.12276G>A	NP_000287.3:p.Leu4092=
NM_001009944.2:c.12279G>A	NP_001009944.2:p.Leu4093=
XM_005255370.2:c.9234G>A	XP_005255427.1:p.Leu3078=
XM_011522525.1:c.12357G>A	XP_011520827.1:p.Leu4119=
XM_011522526.1:c.12354G>A	XP_011520828.1:p.Leu4118=
XM_011522527.1:c.12339G>A	XP_011520829.1:p.Leu4113=
XM_011522528.1:c.12333G>A	XP_011520830.1:p.Leu4111=
XM_011522529.1:c.12330G>A	XP_011520831.1:p.Leu4110=
XM_011522530.1:c.12303G>A	XP_011520832.1:p.Leu4101=
XM_011522531.1:c.12285G>A	XP_011520833.1:p.Leu4095=
XM_011522532.1:c.12231G>A	XP_011520834.1:p.Leu4077=
XM_011522533.1:c.12150G>A	XP_011520835.1:p.Leu4050=
XM_011522534.1:c.12093G>A	XP_011520836.1:p.Leu4031=
XM_011522535.1:c.10179G>A	XP_011520837.1:p.Leu3393=
XM_011522537.1:c.9357G>A	XP_011520839.1:p.Leu3119=
XR_932867.1:n.12197G>A
XM_005255370.3:c.9234G>A	XP_005255427.1:p.Leu3078=
XM_011522528.3:c.12333G>A	XP_011520830.1:p.Leu4111=
XM_011522529.2:c.12330G>A	XP_011520831.1:p.Leu4110=
XM_011522537.2:c.9357G>A	XP_011520839.1:p.Leu3119=
XM_024450298.1:c.12399G>A	XP_024306066.1:p.Leu4133=
XM_024450299.1:c.12327G>A	XP_024306067.1:p.Leu4109=
XM_024450300.1:c.12189G>A	XP_024306068.1:p.Leu4063=
XM_024450301.1:c.10275G>A	XP_024306069.1:p.Leu3425=
NM_000296.4:c.12276G>A	NP_000287.4:p.Leu4092=
NM_001009944.3:c.12279G>A MANE Select	NP_001009944.3:p.Leu4093=