Canonical Allele Identifier: CA7828681

Gene: PKD1

Linked Data

• dbSNP Id: rs762207724
• ExAC: 16:2140396 C / A
• gnomAD v2: 16-2140396-C-A
• gnomAD v4: 16-2090395-C-A
• MyVariant Identifiers: chr16:g.2140396C>A (hg19) ; chr16:g.2090395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090395C>A , CM000678.2:g.2090395C>A	GRCh38
NC_000016.9:g.2140396C>A , CM000678.1:g.2140396C>A	GRCh37
NC_000016.8:g.2080397C>A	NCBI36
NG_005895.1:g.46090C>A , LRG_487:g.46090C>A
NG_008617.1:g.52826G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12334G>T MANE Select	ENSP00000262304.4:p.Ala4112Ser
ENST00000262304.8:c.12334G>T	ENSP00000262304.4:p.Ala4112Ser
ENST00000423118.5:c.12331G>T	ENSP00000399501.1:p.Ala4111Ser
ENST00000472577.1:n.362G>T
NM_000296.3:c.12331G>T	NP_000287.3:p.Ala4111Ser
NM_001009944.2:c.12334G>T	NP_001009944.2:p.Ala4112Ser
XM_005255370.2:c.9289G>T	XP_005255427.1:p.Ala3097Ser
XM_011522525.1:c.12412G>T	XP_011520827.1:p.Ala4138Ser
XM_011522526.1:c.12409G>T	XP_011520828.1:p.Ala4137Ser
XM_011522527.1:c.12394G>T	XP_011520829.1:p.Ala4132Ser
XM_011522528.1:c.12388G>T	XP_011520830.1:p.Ala4130Ser
XM_011522529.1:c.12385G>T	XP_011520831.1:p.Ala4129Ser
XM_011522530.1:c.12358G>T	XP_011520832.1:p.Ala4120Ser
XM_011522531.1:c.12340G>T	XP_011520833.1:p.Ala4114Ser
XM_011522532.1:c.12286G>T	XP_011520834.1:p.Ala4096Ser
XM_011522533.1:c.12205G>T	XP_011520835.1:p.Ala4069Ser
XM_011522534.1:c.12148G>T	XP_011520836.1:p.Ala4050Ser
XM_011522535.1:c.10234G>T	XP_011520837.1:p.Ala3412Ser
XM_011522537.1:c.9412G>T	XP_011520839.1:p.Ala3138Ser
XR_932867.1:n.12252G>T
XM_005255370.3:c.9289G>T	XP_005255427.1:p.Ala3097Ser
XM_011522528.3:c.12388G>T	XP_011520830.1:p.Ala4130Ser
XM_011522529.2:c.12385G>T	XP_011520831.1:p.Ala4129Ser
XM_011522537.2:c.9412G>T	XP_011520839.1:p.Ala3138Ser
XM_024450298.1:c.12454G>T	XP_024306066.1:p.Ala4152Ser
XM_024450299.1:c.12382G>T	XP_024306067.1:p.Ala4128Ser
XM_024450300.1:c.12244G>T	XP_024306068.1:p.Ala4082Ser
XM_024450301.1:c.10330G>T	XP_024306069.1:p.Ala3444Ser
NM_000296.4:c.12331G>T	NP_000287.4:p.Ala4111Ser
NM_001009944.3:c.12334G>T MANE Select	NP_001009944.3:p.Ala4112Ser