Canonical Allele Identifier: CA394325405

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140405G>T (hg19) ; chr16:g.2090404G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090404G>T , CM000678.2:g.2090404G>T	GRCh38
NC_000016.9:g.2140405G>T , CM000678.1:g.2140405G>T	GRCh37
NC_000016.8:g.2080406G>T	NCBI36
NG_005895.1:g.46099G>T , LRG_487:g.46099G>T
NG_008617.1:g.52817C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12325C>A MANE Select	ENSP00000262304.4:p.Arg4109Ser
ENST00000262304.8:c.12325C>A	ENSP00000262304.4:p.Arg4109Ser
ENST00000423118.5:c.12322C>A	ENSP00000399501.1:p.Arg4108Ser
ENST00000472577.1:n.353C>A
NM_000296.3:c.12322C>A	NP_000287.3:p.Arg4108Ser
NM_001009944.2:c.12325C>A	NP_001009944.2:p.Arg4109Ser
XM_005255370.2:c.9280C>A	XP_005255427.1:p.Arg3094Ser
XM_011522525.1:c.12403C>A	XP_011520827.1:p.Arg4135Ser
XM_011522526.1:c.12400C>A	XP_011520828.1:p.Arg4134Ser
XM_011522527.1:c.12385C>A	XP_011520829.1:p.Arg4129Ser
XM_011522528.1:c.12379C>A	XP_011520830.1:p.Arg4127Ser
XM_011522529.1:c.12376C>A	XP_011520831.1:p.Arg4126Ser
XM_011522530.1:c.12349C>A	XP_011520832.1:p.Arg4117Ser
XM_011522531.1:c.12331C>A	XP_011520833.1:p.Arg4111Ser
XM_011522532.1:c.12277C>A	XP_011520834.1:p.Arg4093Ser
XM_011522533.1:c.12196C>A	XP_011520835.1:p.Arg4066Ser
XM_011522534.1:c.12139C>A	XP_011520836.1:p.Arg4047Ser
XM_011522535.1:c.10225C>A	XP_011520837.1:p.Arg3409Ser
XM_011522537.1:c.9403C>A	XP_011520839.1:p.Arg3135Ser
XR_932867.1:n.12243C>A
XM_005255370.3:c.9280C>A	XP_005255427.1:p.Arg3094Ser
XM_011522528.3:c.12379C>A	XP_011520830.1:p.Arg4127Ser
XM_011522529.2:c.12376C>A	XP_011520831.1:p.Arg4126Ser
XM_011522537.2:c.9403C>A	XP_011520839.1:p.Arg3135Ser
XM_024450298.1:c.12445C>A	XP_024306066.1:p.Arg4149Ser
XM_024450299.1:c.12373C>A	XP_024306067.1:p.Arg4125Ser
XM_024450300.1:c.12235C>A	XP_024306068.1:p.Arg4079Ser
XM_024450301.1:c.10321C>A	XP_024306069.1:p.Arg3441Ser
NM_000296.4:c.12322C>A	NP_000287.4:p.Arg4108Ser
NM_001009944.3:c.12325C>A MANE Select	NP_001009944.3:p.Arg4109Ser