Canonical Allele Identifier: CA394325794

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140455G>C (hg19) ; chr16:g.2090454G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090454G>C , CM000678.2:g.2090454G>C	GRCh38
NC_000016.9:g.2140455G>C , CM000678.1:g.2140455G>C	GRCh37
NC_000016.8:g.2080456G>C	NCBI36
NG_005895.1:g.46149G>C , LRG_487:g.46149G>C
NG_008617.1:g.52767C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12275C>G MANE Select	ENSP00000262304.4:p.Ala4092Gly
ENST00000262304.8:c.12275C>G	ENSP00000262304.4:p.Ala4092Gly
ENST00000423118.5:c.12272C>G	ENSP00000399501.1:p.Ala4091Gly
ENST00000472577.1:n.303C>G
NM_000296.3:c.12272C>G	NP_000287.3:p.Ala4091Gly
NM_001009944.2:c.12275C>G	NP_001009944.2:p.Ala4092Gly
XM_005255370.2:c.9230C>G	XP_005255427.1:p.Ala3077Gly
XM_011522525.1:c.12353C>G	XP_011520827.1:p.Ala4118Gly
XM_011522526.1:c.12350C>G	XP_011520828.1:p.Ala4117Gly
XM_011522527.1:c.12335C>G	XP_011520829.1:p.Ala4112Gly
XM_011522528.1:c.12329C>G	XP_011520830.1:p.Ala4110Gly
XM_011522529.1:c.12326C>G	XP_011520831.1:p.Ala4109Gly
XM_011522530.1:c.12299C>G	XP_011520832.1:p.Ala4100Gly
XM_011522531.1:c.12281C>G	XP_011520833.1:p.Ala4094Gly
XM_011522532.1:c.12227C>G	XP_011520834.1:p.Ala4076Gly
XM_011522533.1:c.12146C>G	XP_011520835.1:p.Ala4049Gly
XM_011522534.1:c.12089C>G	XP_011520836.1:p.Ala4030Gly
XM_011522535.1:c.10175C>G	XP_011520837.1:p.Ala3392Gly
XM_011522537.1:c.9353C>G	XP_011520839.1:p.Ala3118Gly
XR_932867.1:n.12193C>G
XM_005255370.3:c.9230C>G	XP_005255427.1:p.Ala3077Gly
XM_011522528.3:c.12329C>G	XP_011520830.1:p.Ala4110Gly
XM_011522529.2:c.12326C>G	XP_011520831.1:p.Ala4109Gly
XM_011522537.2:c.9353C>G	XP_011520839.1:p.Ala3118Gly
XM_024450298.1:c.12395C>G	XP_024306066.1:p.Ala4132Gly
XM_024450299.1:c.12323C>G	XP_024306067.1:p.Ala4108Gly
XM_024450300.1:c.12185C>G	XP_024306068.1:p.Ala4062Gly
XM_024450301.1:c.10271C>G	XP_024306069.1:p.Ala3424Gly
NM_000296.4:c.12272C>G	NP_000287.4:p.Ala4091Gly
NM_001009944.3:c.12275C>G MANE Select	NP_001009944.3:p.Ala4092Gly