Canonical Allele Identifier: CA7828691

Gene: PKD1

Linked Data

• dbSNP Id: rs777567483
• ExAC: 16:2140418 A / G
• gnomAD v2: 16-2140418-A-G
• MyVariant Identifiers: chr16:g.2140418A>G (hg19) ; chr16:g.2090417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090417A>G , CM000678.2:g.2090417A>G	GRCh38
NC_000016.9:g.2140418A>G , CM000678.1:g.2140418A>G	GRCh37
NC_000016.8:g.2080419A>G	NCBI36
NG_005895.1:g.46112A>G , LRG_487:g.46112A>G
NG_008617.1:g.52804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12312T>C MANE Select	ENSP00000262304.4:p.Val4104=
ENST00000262304.8:c.12312T>C	ENSP00000262304.4:p.Val4104=
ENST00000423118.5:c.12309T>C	ENSP00000399501.1:p.Val4103=
ENST00000472577.1:n.340T>C
NM_000296.3:c.12309T>C	NP_000287.3:p.Val4103=
NM_001009944.2:c.12312T>C	NP_001009944.2:p.Val4104=
XM_005255370.2:c.9267T>C	XP_005255427.1:p.Val3089=
XM_011522525.1:c.12390T>C	XP_011520827.1:p.Val4130=
XM_011522526.1:c.12387T>C	XP_011520828.1:p.Val4129=
XM_011522527.1:c.12372T>C	XP_011520829.1:p.Val4124=
XM_011522528.1:c.12366T>C	XP_011520830.1:p.Val4122=
XM_011522529.1:c.12363T>C	XP_011520831.1:p.Val4121=
XM_011522530.1:c.12336T>C	XP_011520832.1:p.Val4112=
XM_011522531.1:c.12318T>C	XP_011520833.1:p.Val4106=
XM_011522532.1:c.12264T>C	XP_011520834.1:p.Val4088=
XM_011522533.1:c.12183T>C	XP_011520835.1:p.Val4061=
XM_011522534.1:c.12126T>C	XP_011520836.1:p.Val4042=
XM_011522535.1:c.10212T>C	XP_011520837.1:p.Val3404=
XM_011522537.1:c.9390T>C	XP_011520839.1:p.Val3130=
XR_932867.1:n.12230T>C
XM_005255370.3:c.9267T>C	XP_005255427.1:p.Val3089=
XM_011522528.3:c.12366T>C	XP_011520830.1:p.Val4122=
XM_011522529.2:c.12363T>C	XP_011520831.1:p.Val4121=
XM_011522537.2:c.9390T>C	XP_011520839.1:p.Val3130=
XM_024450298.1:c.12432T>C	XP_024306066.1:p.Val4144=
XM_024450299.1:c.12360T>C	XP_024306067.1:p.Val4120=
XM_024450300.1:c.12222T>C	XP_024306068.1:p.Val4074=
XM_024450301.1:c.10308T>C	XP_024306069.1:p.Val3436=
NM_000296.4:c.12309T>C	NP_000287.4:p.Val4103=
NM_001009944.3:c.12312T>C MANE Select	NP_001009944.3:p.Val4104=