Canonical Allele Identifier: CA394371072

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156627T>G (hg19) ; chr16:g.2106626T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106626T>G , CM000678.2:g.2106626T>G	GRCh38
NC_000016.9:g.2156627T>G , CM000678.1:g.2156627T>G	GRCh37
NC_000016.8:g.2096628T>G	NCBI36
NG_008617.1:g.34273A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7261A>C MANE Select	ENSP00000262304.4:p.Thr2421Pro
ENST00000262304.8:c.7261A>C	ENSP00000262304.4:p.Thr2421Pro
ENST00000415938.7:n.506A>C
ENST00000423118.5:c.7261A>C	ENSP00000399501.1:p.Thr2421Pro
ENST00000483024.1:c.429A>C
ENST00000483558.5:n.320A>C
ENST00000483731.5:n.986A>C
ENST00000486339.6:n.1007A>C
ENST00000487932.5:c.1948A>C	ENSP00000457132.1:p.Thr650Pro
ENST00000496574.6:n.1264A>C
ENST00000565639.6:n.969A>C
ENST00000568591.5:c.2422A>C	ENSP00000457162.1:n.2422A>C
ENST00000569983.5:n.617A>C
NM_000296.3:c.7261A>C	NP_000287.3:p.Thr2421Pro
NM_001009944.2:c.7261A>C	NP_001009944.2:p.Thr2421Pro
XM_005255370.2:c.4216A>C	XP_005255427.1:p.Thr1406Pro
XM_011522525.1:c.7339A>C	XP_011520827.1:p.Thr2447Pro
XM_011522526.1:c.7339A>C	XP_011520828.1:p.Thr2447Pro
XM_011522527.1:c.7339A>C	XP_011520829.1:p.Thr2447Pro
XM_011522528.1:c.7315A>C	XP_011520830.1:p.Thr2439Pro
XM_011522529.1:c.7315A>C	XP_011520831.1:p.Thr2439Pro
XM_011522530.1:c.7285A>C	XP_011520832.1:p.Thr2429Pro
XM_011522531.1:c.7267A>C	XP_011520833.1:p.Thr2423Pro
XM_011522532.1:c.7213A>C	XP_011520834.1:p.Thr2405Pro
XM_011522533.1:c.7132A>C	XP_011520835.1:p.Thr2378Pro
XM_011522534.1:c.7075A>C	XP_011520836.1:p.Thr2359Pro
XM_011522535.1:c.5161A>C	XP_011520837.1:p.Thr1721Pro
XM_011522536.1:c.7339A>C	XP_011520838.1:p.Thr2447Pro
XM_011522537.1:c.4339A>C	XP_011520839.1:p.Thr1447Pro
XR_932867.1:n.7354A>C
XR_932868.1:n.7354A>C
XR_932869.1:n.7354A>C
XR_932870.1:n.7354A>C
XM_005255370.3:c.4216A>C	XP_005255427.1:p.Thr1406Pro
XM_011522528.3:c.7315A>C	XP_011520830.1:p.Thr2439Pro
XM_011522529.2:c.7315A>C	XP_011520831.1:p.Thr2439Pro
XM_011522537.2:c.4339A>C	XP_011520839.1:p.Thr1447Pro
XM_024450298.1:c.7381A>C	XP_024306066.1:p.Thr2461Pro
XM_024450299.1:c.7309A>C	XP_024306067.1:p.Thr2437Pro
XM_024450300.1:c.7171A>C	XP_024306068.1:p.Thr2391Pro
XM_024450301.1:c.5257A>C	XP_024306069.1:p.Thr1753Pro
NM_000296.4:c.7261A>C	NP_000287.4:p.Thr2421Pro
NM_001009944.3:c.7261A>C MANE Select	NP_001009944.3:p.Thr2421Pro