Canonical Allele Identifier: CA493044535

Gene: PKD1

Linked Data

• gnomAD v4: 16-2090462-C-A
• MyVariant Identifiers: chr16:g.2140463C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090462C>A , CM000678.2:g.2090462C>A	GRCh38
NC_000016.9:g.2140463C>A , CM000678.1:g.2140463C>A	GRCh37
NC_000016.8:g.2080464C>A	NCBI36
NG_005895.1:g.46157C>A , LRG_487:g.46157C>A
NG_008617.1:g.52759G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12267G>T MANE Select	ENSP00000262304.4:p.Gly4089=
ENST00000262304.8:c.12267G>T	ENSP00000262304.4:p.Gly4089=
ENST00000423118.5:c.12264G>T	ENSP00000399501.1:p.Gly4088=
ENST00000472577.1:n.295G>T
NM_000296.3:c.12264G>T	NP_000287.3:p.Gly4088=
NM_001009944.2:c.12267G>T	NP_001009944.2:p.Gly4089=
XM_005255370.2:c.9222G>T	XP_005255427.1:p.Gly3074=
XM_011522525.1:c.12345G>T	XP_011520827.1:p.Gly4115=
XM_011522526.1:c.12342G>T	XP_011520828.1:p.Gly4114=
XM_011522527.1:c.12327G>T	XP_011520829.1:p.Gly4109=
XM_011522528.1:c.12321G>T	XP_011520830.1:p.Gly4107=
XM_011522529.1:c.12318G>T	XP_011520831.1:p.Gly4106=
XM_011522530.1:c.12291G>T	XP_011520832.1:p.Gly4097=
XM_011522531.1:c.12273G>T	XP_011520833.1:p.Gly4091=
XM_011522532.1:c.12219G>T	XP_011520834.1:p.Gly4073=
XM_011522533.1:c.12138G>T	XP_011520835.1:p.Gly4046=
XM_011522534.1:c.12081G>T	XP_011520836.1:p.Gly4027=
XM_011522535.1:c.10167G>T	XP_011520837.1:p.Gly3389=
XM_011522537.1:c.9345G>T	XP_011520839.1:p.Gly3115=
XR_932867.1:n.12185G>T
XM_005255370.3:c.9222G>T	XP_005255427.1:p.Gly3074=
XM_011522528.3:c.12321G>T	XP_011520830.1:p.Gly4107=
XM_011522529.2:c.12318G>T	XP_011520831.1:p.Gly4106=
XM_011522537.2:c.9345G>T	XP_011520839.1:p.Gly3115=
XM_024450298.1:c.12387G>T	XP_024306066.1:p.Gly4129=
XM_024450299.1:c.12315G>T	XP_024306067.1:p.Gly4105=
XM_024450300.1:c.12177G>T	XP_024306068.1:p.Gly4059=
XM_024450301.1:c.10263G>T	XP_024306069.1:p.Gly3421=
NM_000296.4:c.12264G>T	NP_000287.4:p.Gly4088=
NM_001009944.3:c.12267G>T MANE Select	NP_001009944.3:p.Gly4089=