Canonical Allele Identifier: CA394325346

Gene: PKD1

Linked Data

• ClinVar Variation Id: 2621905
• ClinVar RCV Id: RCV003386519
• dbSNP Id: rs1277822612
• gnomAD v2: 16-2140399-G-A
• gnomAD v4: 16-2090398-G-A
• MyVariant Identifiers: chr16:g.2140399G>A (hg19) ; chr16:g.2090398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090398G>A , CM000678.2:g.2090398G>A	GRCh38
NC_000016.9:g.2140399G>A , CM000678.1:g.2140399G>A	GRCh37
NC_000016.8:g.2080400G>A	NCBI36
NG_005895.1:g.46093G>A , LRG_487:g.46093G>A
NG_008617.1:g.52823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12331C>T MANE Select	ENSP00000262304.4:p.His4111Tyr
ENST00000262304.8:c.12331C>T	ENSP00000262304.4:p.His4111Tyr
ENST00000423118.5:c.12328C>T	ENSP00000399501.1:p.His4110Tyr
ENST00000472577.1:n.359C>T
NM_000296.3:c.12328C>T	NP_000287.3:p.His4110Tyr
NM_001009944.2:c.12331C>T	NP_001009944.2:p.His4111Tyr
XM_005255370.2:c.9286C>T	XP_005255427.1:p.His3096Tyr
XM_011522525.1:c.12409C>T	XP_011520827.1:p.His4137Tyr
XM_011522526.1:c.12406C>T	XP_011520828.1:p.His4136Tyr
XM_011522527.1:c.12391C>T	XP_011520829.1:p.His4131Tyr
XM_011522528.1:c.12385C>T	XP_011520830.1:p.His4129Tyr
XM_011522529.1:c.12382C>T	XP_011520831.1:p.His4128Tyr
XM_011522530.1:c.12355C>T	XP_011520832.1:p.His4119Tyr
XM_011522531.1:c.12337C>T	XP_011520833.1:p.His4113Tyr
XM_011522532.1:c.12283C>T	XP_011520834.1:p.His4095Tyr
XM_011522533.1:c.12202C>T	XP_011520835.1:p.His4068Tyr
XM_011522534.1:c.12145C>T	XP_011520836.1:p.His4049Tyr
XM_011522535.1:c.10231C>T	XP_011520837.1:p.His3411Tyr
XM_011522537.1:c.9409C>T	XP_011520839.1:p.His3137Tyr
XR_932867.1:n.12249C>T
XM_005255370.3:c.9286C>T	XP_005255427.1:p.His3096Tyr
XM_011522528.3:c.12385C>T	XP_011520830.1:p.His4129Tyr
XM_011522529.2:c.12382C>T	XP_011520831.1:p.His4128Tyr
XM_011522537.2:c.9409C>T	XP_011520839.1:p.His3137Tyr
XM_024450298.1:c.12451C>T	XP_024306066.1:p.His4151Tyr
XM_024450299.1:c.12379C>T	XP_024306067.1:p.His4127Tyr
XM_024450300.1:c.12241C>T	XP_024306068.1:p.His4081Tyr
XM_024450301.1:c.10327C>T	XP_024306069.1:p.His3443Tyr
NM_000296.4:c.12328C>T	NP_000287.4:p.His4110Tyr
NM_001009944.3:c.12331C>T MANE Select	NP_001009944.3:p.His4111Tyr