Canonical Allele Identifier: CA394393682

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2168035C>A (hg19) ; chr16:g.2118034C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2118034C>A , CM000678.2:g.2118034C>A	GRCh38
NC_000016.9:g.2168035C>A , CM000678.1:g.2168035C>A	GRCh37
NC_000016.8:g.2108036C>A	NCBI36
NG_008617.1:g.22865G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.958G>T MANE Select	ENSP00000262304.4:p.Ala320Ser
ENST00000262304.8:c.958G>T	ENSP00000262304.4:p.Ala320Ser
ENST00000423118.5:c.958G>T	ENSP00000399501.1:p.Ala320Ser
ENST00000488185.2:c.45G>T
ENST00000570150.1:n.91G>T
NM_000296.3:c.958G>T	NP_000287.3:p.Ala320Ser
NM_001009944.2:c.958G>T	NP_001009944.2:p.Ala320Ser
XM_011522525.1:c.1012G>T	XP_011520827.1:p.Ala338Ser
XM_011522526.1:c.1012G>T	XP_011520828.1:p.Ala338Ser
XM_011522527.1:c.1012G>T	XP_011520829.1:p.Ala338Ser
XM_011522528.1:c.1012G>T	XP_011520830.1:p.Ala338Ser
XM_011522529.1:c.1012G>T	XP_011520831.1:p.Ala338Ser
XM_011522530.1:c.958G>T	XP_011520832.1:p.Ala320Ser
XM_011522531.1:c.940G>T	XP_011520833.1:p.Ala314Ser
XM_011522532.1:c.886G>T	XP_011520834.1:p.Ala296Ser
XM_011522533.1:c.805G>T	XP_011520835.1:p.Ala269Ser
XM_011522534.1:c.748G>T	XP_011520836.1:p.Ala250Ser
XM_011522536.1:c.1012G>T	XP_011520838.1:p.Ala338Ser
XR_932867.1:n.1027G>T
XR_932868.1:n.1027G>T
XR_932869.1:n.1027G>T
XR_932870.1:n.1027G>T
XM_011522528.3:c.1012G>T	XP_011520830.1:p.Ala338Ser
XM_011522529.2:c.1012G>T	XP_011520831.1:p.Ala338Ser
XM_024450298.1:c.958G>T	XP_024306066.1:p.Ala320Ser
XM_024450299.1:c.886G>T	XP_024306067.1:p.Ala296Ser
XM_024450300.1:c.748G>T	XP_024306068.1:p.Ala250Ser
NM_000296.4:c.958G>T	NP_000287.4:p.Ala320Ser
NM_001009944.3:c.958G>T MANE Select	NP_001009944.3:p.Ala320Ser