Canonical Allele Identifier: CA394371063

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106625-G-T
• MyVariant Identifiers: chr16:g.2156626G>T (hg19) ; chr16:g.2106625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106625G>T , CM000678.2:g.2106625G>T	GRCh38
NC_000016.9:g.2156626G>T , CM000678.1:g.2156626G>T	GRCh37
NC_000016.8:g.2096627G>T	NCBI36
NG_008617.1:g.34274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7262C>A MANE Select	ENSP00000262304.4:p.Thr2421Asn
ENST00000262304.8:c.7262C>A	ENSP00000262304.4:p.Thr2421Asn
ENST00000415938.7:n.507C>A
ENST00000423118.5:c.7262C>A	ENSP00000399501.1:p.Thr2421Asn
ENST00000483024.1:c.430C>A
ENST00000483558.5:n.321C>A
ENST00000483731.5:n.987C>A
ENST00000486339.6:n.1008C>A
ENST00000487932.5:c.1949C>A	ENSP00000457132.1:p.Thr650Asn
ENST00000496574.6:n.1265C>A
ENST00000565639.6:n.970C>A
ENST00000568591.5:c.2423C>A	ENSP00000457162.1:n.2423C>A
ENST00000569983.5:n.618C>A
NM_000296.3:c.7262C>A	NP_000287.3:p.Thr2421Asn
NM_001009944.2:c.7262C>A	NP_001009944.2:p.Thr2421Asn
XM_005255370.2:c.4217C>A	XP_005255427.1:p.Thr1406Asn
XM_011522525.1:c.7340C>A	XP_011520827.1:p.Thr2447Asn
XM_011522526.1:c.7340C>A	XP_011520828.1:p.Thr2447Asn
XM_011522527.1:c.7340C>A	XP_011520829.1:p.Thr2447Asn
XM_011522528.1:c.7316C>A	XP_011520830.1:p.Thr2439Asn
XM_011522529.1:c.7316C>A	XP_011520831.1:p.Thr2439Asn
XM_011522530.1:c.7286C>A	XP_011520832.1:p.Thr2429Asn
XM_011522531.1:c.7268C>A	XP_011520833.1:p.Thr2423Asn
XM_011522532.1:c.7214C>A	XP_011520834.1:p.Thr2405Asn
XM_011522533.1:c.7133C>A	XP_011520835.1:p.Thr2378Asn
XM_011522534.1:c.7076C>A	XP_011520836.1:p.Thr2359Asn
XM_011522535.1:c.5162C>A	XP_011520837.1:p.Thr1721Asn
XM_011522536.1:c.7340C>A	XP_011520838.1:p.Thr2447Asn
XM_011522537.1:c.4340C>A	XP_011520839.1:p.Thr1447Asn
XR_932867.1:n.7355C>A
XR_932868.1:n.7355C>A
XR_932869.1:n.7355C>A
XR_932870.1:n.7355C>A
XM_005255370.3:c.4217C>A	XP_005255427.1:p.Thr1406Asn
XM_011522528.3:c.7316C>A	XP_011520830.1:p.Thr2439Asn
XM_011522529.2:c.7316C>A	XP_011520831.1:p.Thr2439Asn
XM_011522537.2:c.4340C>A	XP_011520839.1:p.Thr1447Asn
XM_024450298.1:c.7382C>A	XP_024306066.1:p.Thr2461Asn
XM_024450299.1:c.7310C>A	XP_024306067.1:p.Thr2437Asn
XM_024450300.1:c.7172C>A	XP_024306068.1:p.Thr2391Asn
XM_024450301.1:c.5258C>A	XP_024306069.1:p.Thr1753Asn
NM_000296.4:c.7262C>A	NP_000287.4:p.Thr2421Asn
NM_001009944.3:c.7262C>A MANE Select	NP_001009944.3:p.Thr2421Asn