Canonical Allele Identifier: CA493044245

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140514A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090513A>G , CM000678.2:g.2090513A>G	GRCh38
NC_000016.9:g.2140514A>G , CM000678.1:g.2140514A>G	GRCh37
NC_000016.8:g.2080515A>G	NCBI36
NG_005895.1:g.46208A>G , LRG_487:g.46208A>G
NG_008617.1:g.52708T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12216T>C MANE Select	ENSP00000262304.4:p.Ser4072=
ENST00000262304.8:c.12216T>C	ENSP00000262304.4:p.Ser4072=
ENST00000423118.5:c.12213T>C	ENSP00000399501.1:p.Ser4071=
ENST00000472577.1:n.244T>C
NM_000296.3:c.12213T>C	NP_000287.3:p.Ser4071=
NM_001009944.2:c.12216T>C	NP_001009944.2:p.Ser4072=
XM_005255370.2:c.9171T>C	XP_005255427.1:p.Ser3057=
XM_011522525.1:c.12294T>C	XP_011520827.1:p.Ser4098=
XM_011522526.1:c.12291T>C	XP_011520828.1:p.Ser4097=
XM_011522527.1:c.12276T>C	XP_011520829.1:p.Ser4092=
XM_011522528.1:c.12270T>C	XP_011520830.1:p.Ser4090=
XM_011522529.1:c.12267T>C	XP_011520831.1:p.Ser4089=
XM_011522530.1:c.12240T>C	XP_011520832.1:p.Ser4080=
XM_011522531.1:c.12222T>C	XP_011520833.1:p.Ser4074=
XM_011522532.1:c.12168T>C	XP_011520834.1:p.Ser4056=
XM_011522533.1:c.12087T>C	XP_011520835.1:p.Ser4029=
XM_011522534.1:c.12030T>C	XP_011520836.1:p.Ser4010=
XM_011522535.1:c.10116T>C	XP_011520837.1:p.Ser3372=
XM_011522537.1:c.9294T>C	XP_011520839.1:p.Ser3098=
XR_932867.1:n.12134T>C
XM_005255370.3:c.9171T>C	XP_005255427.1:p.Ser3057=
XM_011522528.3:c.12270T>C	XP_011520830.1:p.Ser4090=
XM_011522529.2:c.12267T>C	XP_011520831.1:p.Ser4089=
XM_011522537.2:c.9294T>C	XP_011520839.1:p.Ser3098=
XM_024450298.1:c.12336T>C	XP_024306066.1:p.Ser4112=
XM_024450299.1:c.12264T>C	XP_024306067.1:p.Ser4088=
XM_024450300.1:c.12126T>C	XP_024306068.1:p.Ser4042=
XM_024450301.1:c.10212T>C	XP_024306069.1:p.Ser3404=
NM_000296.4:c.12213T>C	NP_000287.4:p.Ser4071=
NM_001009944.3:c.12216T>C MANE Select	NP_001009944.3:p.Ser4072=