Canonical Allele Identifier: CA493046710

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156526A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106525A>T , CM000678.2:g.2106525A>T	GRCh38
NC_000016.9:g.2156526A>T , CM000678.1:g.2156526A>T	GRCh37
NC_000016.8:g.2096527A>T	NCBI36
NG_008617.1:g.34374T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7362T>A MANE Select	ENSP00000262304.4:p.Ser2454=
ENST00000262304.8:c.7362T>A	ENSP00000262304.4:p.Ser2454=
ENST00000415938.7:n.607T>A
ENST00000423118.5:c.7362T>A	ENSP00000399501.1:p.Ser2454=
ENST00000483558.5:n.421T>A
ENST00000483731.5:n.1087T>A
ENST00000486339.6:n.1108T>A
ENST00000487932.5:c.2049T>A	ENSP00000457132.1:p.Ser683=
ENST00000496574.6:n.1365T>A
ENST00000565639.6:n.1070T>A
ENST00000568591.5:c.2523T>A	ENSP00000457162.1:n.2523T>A
ENST00000569983.5:n.718T>A
NM_000296.3:c.7362T>A	NP_000287.3:p.Ser2454=
NM_001009944.2:c.7362T>A	NP_001009944.2:p.Ser2454=
XM_005255370.2:c.4317T>A	XP_005255427.1:p.Ser1439=
XM_011522525.1:c.7440T>A	XP_011520827.1:p.Ser2480=
XM_011522526.1:c.7440T>A	XP_011520828.1:p.Ser2480=
XM_011522527.1:c.7440T>A	XP_011520829.1:p.Ser2480=
XM_011522528.1:c.7416T>A	XP_011520830.1:p.Ser2472=
XM_011522529.1:c.7416T>A	XP_011520831.1:p.Ser2472=
XM_011522530.1:c.7386T>A	XP_011520832.1:p.Ser2462=
XM_011522531.1:c.7368T>A	XP_011520833.1:p.Ser2456=
XM_011522532.1:c.7314T>A	XP_011520834.1:p.Ser2438=
XM_011522533.1:c.7233T>A	XP_011520835.1:p.Ser2411=
XM_011522534.1:c.7176T>A	XP_011520836.1:p.Ser2392=
XM_011522535.1:c.5262T>A	XP_011520837.1:p.Ser1754=
XM_011522536.1:c.7440T>A	XP_011520838.1:p.Ser2480=
XM_011522537.1:c.4440T>A	XP_011520839.1:p.Ser1480=
XR_932867.1:n.7455T>A
XR_932868.1:n.7455T>A
XR_932869.1:n.7455T>A
XR_932870.1:n.7455T>A
XM_005255370.3:c.4317T>A	XP_005255427.1:p.Ser1439=
XM_011522528.3:c.7416T>A	XP_011520830.1:p.Ser2472=
XM_011522529.2:c.7416T>A	XP_011520831.1:p.Ser2472=
XM_011522537.2:c.4440T>A	XP_011520839.1:p.Ser1480=
XM_024450298.1:c.7482T>A	XP_024306066.1:p.Ser2494=
XM_024450299.1:c.7410T>A	XP_024306067.1:p.Ser2470=
XM_024450300.1:c.7272T>A	XP_024306068.1:p.Ser2424=
XM_024450301.1:c.5358T>A	XP_024306069.1:p.Ser1786=
NM_000296.4:c.7362T>A	NP_000287.4:p.Ser2454=
NM_001009944.3:c.7362T>A MANE Select	NP_001009944.3:p.Ser2454=