Canonical Allele Identifier: CA394371065

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156626G>C (hg19) ; chr16:g.2106625G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7262C>G MANE Select	ENSP00000262304.4:p.Thr2421Ser
ENST00000262304.8:c.7262C>G	ENSP00000262304.4:p.Thr2421Ser
ENST00000415938.7:n.507C>G
ENST00000423118.5:c.7262C>G	ENSP00000399501.1:p.Thr2421Ser
ENST00000483024.1:c.430C>G
ENST00000483558.5:n.321C>G
ENST00000483731.5:n.987C>G
ENST00000486339.6:n.1008C>G
ENST00000487932.5:c.1949C>G	ENSP00000457132.1:p.Thr650Ser
ENST00000496574.6:n.1265C>G
ENST00000565639.6:n.970C>G
ENST00000568591.5:c.2423C>G	ENSP00000457162.1:n.2423C>G
ENST00000569983.5:n.618C>G
NM_000296.3:c.7262C>G	NP_000287.3:p.Thr2421Ser
NM_001009944.2:c.7262C>G	NP_001009944.2:p.Thr2421Ser
XM_005255370.2:c.4217C>G	XP_005255427.1:p.Thr1406Ser
XM_011522525.1:c.7340C>G	XP_011520827.1:p.Thr2447Ser
XM_011522526.1:c.7340C>G	XP_011520828.1:p.Thr2447Ser
XM_011522527.1:c.7340C>G	XP_011520829.1:p.Thr2447Ser
XM_011522528.1:c.7316C>G	XP_011520830.1:p.Thr2439Ser
XM_011522529.1:c.7316C>G	XP_011520831.1:p.Thr2439Ser
XM_011522530.1:c.7286C>G	XP_011520832.1:p.Thr2429Ser
XM_011522531.1:c.7268C>G	XP_011520833.1:p.Thr2423Ser
XM_011522532.1:c.7214C>G	XP_011520834.1:p.Thr2405Ser
XM_011522533.1:c.7133C>G	XP_011520835.1:p.Thr2378Ser
XM_011522534.1:c.7076C>G	XP_011520836.1:p.Thr2359Ser
XM_011522535.1:c.5162C>G	XP_011520837.1:p.Thr1721Ser
XM_011522536.1:c.7340C>G	XP_011520838.1:p.Thr2447Ser
XM_011522537.1:c.4340C>G	XP_011520839.1:p.Thr1447Ser
XR_932867.1:n.7355C>G
XR_932868.1:n.7355C>G
XR_932869.1:n.7355C>G
XR_932870.1:n.7355C>G
XM_005255370.3:c.4217C>G	XP_005255427.1:p.Thr1406Ser
XM_011522528.3:c.7316C>G	XP_011520830.1:p.Thr2439Ser
XM_011522529.2:c.7316C>G	XP_011520831.1:p.Thr2439Ser
XM_011522537.2:c.4340C>G	XP_011520839.1:p.Thr1447Ser
XM_024450298.1:c.7382C>G	XP_024306066.1:p.Thr2461Ser
XM_024450299.1:c.7310C>G	XP_024306067.1:p.Thr2437Ser
XM_024450300.1:c.7172C>G	XP_024306068.1:p.Thr2391Ser
XM_024450301.1:c.5258C>G	XP_024306069.1:p.Thr1753Ser
NM_000296.4:c.7262C>G	NP_000287.4:p.Thr2421Ser
NM_001009944.3:c.7262C>G MANE Select	NP_001009944.3:p.Thr2421Ser