Canonical Allele Identifier: CA394369982

Gene: PKD1

Linked Data

• ClinVar Variation Id: 873366
• ClinVar RCV Id: RCV001095591
• dbSNP Id: rs2092341848
• MyVariant Identifiers: chr16:g.2156519C>A (hg19) ; chr16:g.2106518C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106518C>A , CM000678.2:g.2106518C>A	GRCh38
NC_000016.9:g.2156519C>A , CM000678.1:g.2156519C>A	GRCh37
NC_000016.8:g.2096520C>A	NCBI36
NG_008617.1:g.34381G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7369G>T MANE Select	ENSP00000262304.4:p.Glu2457Ter
ENST00000262304.8:c.7369G>T	ENSP00000262304.4:p.Glu2457Ter
ENST00000415938.7:n.614G>T
ENST00000423118.5:c.7369G>T	ENSP00000399501.1:p.Glu2457Ter
ENST00000483558.5:n.428G>T
ENST00000483731.5:n.1094G>T
ENST00000486339.6:n.1115G>T
ENST00000487932.5:c.2056G>T	ENSP00000457132.1:p.Glu686Ter
ENST00000496574.6:n.1372G>T
ENST00000565639.6:n.1077G>T
ENST00000568591.5:c.2530G>T	ENSP00000457162.1:n.2530G>T
NM_000296.3:c.7369G>T	NP_000287.3:p.Glu2457Ter
NM_001009944.2:c.7369G>T	NP_001009944.2:p.Glu2457Ter
XM_005255370.2:c.4324G>T	XP_005255427.1:p.Glu1442Ter
XM_011522525.1:c.7447G>T	XP_011520827.1:p.Glu2483Ter
XM_011522526.1:c.7447G>T	XP_011520828.1:p.Glu2483Ter
XM_011522527.1:c.7447G>T	XP_011520829.1:p.Glu2483Ter
XM_011522528.1:c.7423G>T	XP_011520830.1:p.Glu2475Ter
XM_011522529.1:c.7423G>T	XP_011520831.1:p.Glu2475Ter
XM_011522530.1:c.7393G>T	XP_011520832.1:p.Glu2465Ter
XM_011522531.1:c.7375G>T	XP_011520833.1:p.Glu2459Ter
XM_011522532.1:c.7321G>T	XP_011520834.1:p.Glu2441Ter
XM_011522533.1:c.7240G>T	XP_011520835.1:p.Glu2414Ter
XM_011522534.1:c.7183G>T	XP_011520836.1:p.Glu2395Ter
XM_011522535.1:c.5269G>T	XP_011520837.1:p.Glu1757Ter
XM_011522536.1:c.7447G>T	XP_011520838.1:p.Glu2483Ter
XM_011522537.1:c.4447G>T	XP_011520839.1:p.Glu1483Ter
XR_932867.1:n.7462G>T
XR_932868.1:n.7462G>T
XR_932869.1:n.7462G>T
XR_932870.1:n.7462G>T
XM_005255370.3:c.4324G>T	XP_005255427.1:p.Glu1442Ter
XM_011522528.3:c.7423G>T	XP_011520830.1:p.Glu2475Ter
XM_011522529.2:c.7423G>T	XP_011520831.1:p.Glu2475Ter
XM_011522537.2:c.4447G>T	XP_011520839.1:p.Glu1483Ter
XM_024450298.1:c.7489G>T	XP_024306066.1:p.Glu2497Ter
XM_024450299.1:c.7417G>T	XP_024306067.1:p.Glu2473Ter
XM_024450300.1:c.7279G>T	XP_024306068.1:p.Glu2427Ter
XM_024450301.1:c.5365G>T	XP_024306069.1:p.Glu1789Ter
NM_000296.4:c.7369G>T	NP_000287.4:p.Glu2457Ter
NM_001009944.3:c.7369G>T MANE Select	NP_001009944.3:p.Glu2457Ter