Canonical Allele Identifier: CA276764098

Gene: PKD1

Linked Data

• dbSNP Id: rs1020546338
• gnomAD v4: 16-2090422-C-T
• MyVariant Identifiers: chr16:g.2140423C>T (hg19) ; chr16:g.2090422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090422C>T , CM000678.2:g.2090422C>T	GRCh38
NC_000016.9:g.2140423C>T , CM000678.1:g.2140423C>T	GRCh37
NC_000016.8:g.2080424C>T	NCBI36
NG_005895.1:g.46117C>T , LRG_487:g.46117C>T
NG_008617.1:g.52799G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.12307G>A MANE Select	ENSP00000262304.4:p.Ala4103Thr
ENST00000262304.8:c.12307G>A	ENSP00000262304.4:p.Ala4103Thr
ENST00000423118.5:c.12304G>A	ENSP00000399501.1:p.Ala4102Thr
ENST00000472577.1:n.335G>A
NM_000296.3:c.12304G>A	NP_000287.3:p.Ala4102Thr
NM_001009944.2:c.12307G>A	NP_001009944.2:p.Ala4103Thr
XM_005255370.2:c.9262G>A	XP_005255427.1:p.Ala3088Thr
XM_011522525.1:c.12385G>A	XP_011520827.1:p.Ala4129Thr
XM_011522526.1:c.12382G>A	XP_011520828.1:p.Ala4128Thr
XM_011522527.1:c.12367G>A	XP_011520829.1:p.Ala4123Thr
XM_011522528.1:c.12361G>A	XP_011520830.1:p.Ala4121Thr
XM_011522529.1:c.12358G>A	XP_011520831.1:p.Ala4120Thr
XM_011522530.1:c.12331G>A	XP_011520832.1:p.Ala4111Thr
XM_011522531.1:c.12313G>A	XP_011520833.1:p.Ala4105Thr
XM_011522532.1:c.12259G>A	XP_011520834.1:p.Ala4087Thr
XM_011522533.1:c.12178G>A	XP_011520835.1:p.Ala4060Thr
XM_011522534.1:c.12121G>A	XP_011520836.1:p.Ala4041Thr
XM_011522535.1:c.10207G>A	XP_011520837.1:p.Ala3403Thr
XM_011522537.1:c.9385G>A	XP_011520839.1:p.Ala3129Thr
XR_932867.1:n.12225G>A
XM_005255370.3:c.9262G>A	XP_005255427.1:p.Ala3088Thr
XM_011522528.3:c.12361G>A	XP_011520830.1:p.Ala4121Thr
XM_011522529.2:c.12358G>A	XP_011520831.1:p.Ala4120Thr
XM_011522537.2:c.9385G>A	XP_011520839.1:p.Ala3129Thr
XM_024450298.1:c.12427G>A	XP_024306066.1:p.Ala4143Thr
XM_024450299.1:c.12355G>A	XP_024306067.1:p.Ala4119Thr
XM_024450300.1:c.12217G>A	XP_024306068.1:p.Ala4073Thr
XM_024450301.1:c.10303G>A	XP_024306069.1:p.Ala3435Thr
NM_000296.4:c.12304G>A	NP_000287.4:p.Ala4102Thr
NM_001009944.3:c.12307G>A MANE Select	NP_001009944.3:p.Ala4103Thr