Canonical Allele Identifier: CA394325617

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140429G>T (hg19) ; chr16:g.2090428G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090428G>T , CM000678.2:g.2090428G>T	GRCh38
NC_000016.9:g.2140429G>T , CM000678.1:g.2140429G>T	GRCh37
NC_000016.8:g.2080430G>T	NCBI36
NG_005895.1:g.46123G>T , LRG_487:g.46123G>T
NG_008617.1:g.52793C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.12301C>A MANE Select	ENSP00000262304.4:p.Leu4101Met
ENST00000262304.8:c.12301C>A	ENSP00000262304.4:p.Leu4101Met
ENST00000423118.5:c.12298C>A	ENSP00000399501.1:p.Leu4100Met
ENST00000472577.1:n.329C>A
NM_000296.3:c.12298C>A	NP_000287.3:p.Leu4100Met
NM_001009944.2:c.12301C>A	NP_001009944.2:p.Leu4101Met
XM_005255370.2:c.9256C>A	XP_005255427.1:p.Leu3086Met
XM_011522525.1:c.12379C>A	XP_011520827.1:p.Leu4127Met
XM_011522526.1:c.12376C>A	XP_011520828.1:p.Leu4126Met
XM_011522527.1:c.12361C>A	XP_011520829.1:p.Leu4121Met
XM_011522528.1:c.12355C>A	XP_011520830.1:p.Leu4119Met
XM_011522529.1:c.12352C>A	XP_011520831.1:p.Leu4118Met
XM_011522530.1:c.12325C>A	XP_011520832.1:p.Leu4109Met
XM_011522531.1:c.12307C>A	XP_011520833.1:p.Leu4103Met
XM_011522532.1:c.12253C>A	XP_011520834.1:p.Leu4085Met
XM_011522533.1:c.12172C>A	XP_011520835.1:p.Leu4058Met
XM_011522534.1:c.12115C>A	XP_011520836.1:p.Leu4039Met
XM_011522535.1:c.10201C>A	XP_011520837.1:p.Leu3401Met
XM_011522537.1:c.9379C>A	XP_011520839.1:p.Leu3127Met
XR_932867.1:n.12219C>A
XM_005255370.3:c.9256C>A	XP_005255427.1:p.Leu3086Met
XM_011522528.3:c.12355C>A	XP_011520830.1:p.Leu4119Met
XM_011522529.2:c.12352C>A	XP_011520831.1:p.Leu4118Met
XM_011522537.2:c.9379C>A	XP_011520839.1:p.Leu3127Met
XM_024450298.1:c.12421C>A	XP_024306066.1:p.Leu4141Met
XM_024450299.1:c.12349C>A	XP_024306067.1:p.Leu4117Met
XM_024450300.1:c.12211C>A	XP_024306068.1:p.Leu4071Met
XM_024450301.1:c.10297C>A	XP_024306069.1:p.Leu3433Met
NM_000296.4:c.12298C>A	NP_000287.4:p.Leu4100Met
NM_001009944.3:c.12301C>A MANE Select	NP_001009944.3:p.Leu4101Met