Canonical Allele Identifier: CA394325393

Gene: PKD1

Linked Data

• ClinVar Variation Id: 2585191
• ClinVar RCV Id: RCV003337807
• dbSNP Id: rs1263418410
• MyVariant Identifiers: chr16:g.2140404C>A (hg19) ; chr16:g.2090403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090403C>A , CM000678.2:g.2090403C>A	GRCh38
NC_000016.9:g.2140404C>A , CM000678.1:g.2140404C>A	GRCh37
NC_000016.8:g.2080405C>A	NCBI36
NG_005895.1:g.46098C>A , LRG_487:g.46098C>A
NG_008617.1:g.52818G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12326G>T MANE Select	ENSP00000262304.4:p.Arg4109Leu
ENST00000262304.8:c.12326G>T	ENSP00000262304.4:p.Arg4109Leu
ENST00000423118.5:c.12323G>T	ENSP00000399501.1:p.Arg4108Leu
ENST00000472577.1:n.354G>T
NM_000296.3:c.12323G>T	NP_000287.3:p.Arg4108Leu
NM_001009944.2:c.12326G>T	NP_001009944.2:p.Arg4109Leu
XM_005255370.2:c.9281G>T	XP_005255427.1:p.Arg3094Leu
XM_011522525.1:c.12404G>T	XP_011520827.1:p.Arg4135Leu
XM_011522526.1:c.12401G>T	XP_011520828.1:p.Arg4134Leu
XM_011522527.1:c.12386G>T	XP_011520829.1:p.Arg4129Leu
XM_011522528.1:c.12380G>T	XP_011520830.1:p.Arg4127Leu
XM_011522529.1:c.12377G>T	XP_011520831.1:p.Arg4126Leu
XM_011522530.1:c.12350G>T	XP_011520832.1:p.Arg4117Leu
XM_011522531.1:c.12332G>T	XP_011520833.1:p.Arg4111Leu
XM_011522532.1:c.12278G>T	XP_011520834.1:p.Arg4093Leu
XM_011522533.1:c.12197G>T	XP_011520835.1:p.Arg4066Leu
XM_011522534.1:c.12140G>T	XP_011520836.1:p.Arg4047Leu
XM_011522535.1:c.10226G>T	XP_011520837.1:p.Arg3409Leu
XM_011522537.1:c.9404G>T	XP_011520839.1:p.Arg3135Leu
XR_932867.1:n.12244G>T
XM_005255370.3:c.9281G>T	XP_005255427.1:p.Arg3094Leu
XM_011522528.3:c.12380G>T	XP_011520830.1:p.Arg4127Leu
XM_011522529.2:c.12377G>T	XP_011520831.1:p.Arg4126Leu
XM_011522537.2:c.9404G>T	XP_011520839.1:p.Arg3135Leu
XM_024450298.1:c.12446G>T	XP_024306066.1:p.Arg4149Leu
XM_024450299.1:c.12374G>T	XP_024306067.1:p.Arg4125Leu
XM_024450300.1:c.12236G>T	XP_024306068.1:p.Arg4079Leu
XM_024450301.1:c.10322G>T	XP_024306069.1:p.Arg3441Leu
NM_000296.4:c.12323G>T	NP_000287.4:p.Arg4108Leu
NM_001009944.3:c.12326G>T MANE Select	NP_001009944.3:p.Arg4109Leu