Canonical Allele Identifier: CA7832641

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111403C>T , CM000678.2:g.2111403C>T	GRCh38
NC_000016.9:g.2161404C>T , CM000678.1:g.2161404C>T	GRCh37
NC_000016.8:g.2101405C>T	NCBI36
NG_008617.1:g.29496G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.3764G>A MANE Select	NP_001009944.3:p.Gly1255Asp
ENST00000262304.9:c.3764G>A MANE Select	ENSP00000262304.4:p.Gly1255Asp
NM_000296.3:c.3764G>A	NP_000287.3:p.Gly1255Asp
NM_000296.4:c.3764G>A	NP_000287.4:p.Gly1255Asp
NM_001009944.2:c.3764G>A	NP_001009944.2:p.Gly1255Asp
ENST00000262304.8:c.3764G>A	ENSP00000262304.4:p.Gly1255Asp
ENST00000415938.7:n.310+937G>A
ENST00000423118.5:c.3764G>A	ENSP00000399501.1:p.Gly1255Asp
ENST00000468674.5:n.430+937G>A
ENST00000483024.1:c.233+413G>A
ENST00000483731.5:n.790+937G>A
ENST00000488185.2:c.473-3045G>A
ENST00000565639.6:n.773+937G>A
ENST00000568591.5:c.2226+937G>A	ENSP00000457162.1:n.2226+937G>A
ENST00000569983.5:n.421+937G>A
XM_005255370.2:c.719G>A	XP_005255427.1:p.Gly240Asp
XM_005255370.3:c.719G>A	XP_005255427.1:p.Gly240Asp
XM_011522525.1:c.3842G>A	XP_011520827.1:p.Gly1281Asp
XM_011522526.1:c.3842G>A	XP_011520828.1:p.Gly1281Asp
XM_011522527.1:c.3842G>A	XP_011520829.1:p.Gly1281Asp
XM_011522528.1:c.3818G>A	XP_011520830.1:p.Gly1273Asp
XM_011522528.3:c.3818G>A	XP_011520830.1:p.Gly1273Asp
XM_011522529.1:c.3818G>A	XP_011520831.1:p.Gly1273Asp
XM_011522529.2:c.3818G>A	XP_011520831.1:p.Gly1273Asp
XM_011522530.1:c.3788G>A	XP_011520832.1:p.Gly1263Asp
XM_011522531.1:c.3770G>A	XP_011520833.1:p.Gly1257Asp
XM_011522532.1:c.3716G>A	XP_011520834.1:p.Gly1239Asp
XM_011522533.1:c.3635G>A	XP_011520835.1:p.Gly1212Asp
XM_011522534.1:c.3578G>A	XP_011520836.1:p.Gly1193Asp
XM_011522535.1:c.1664G>A	XP_011520837.1:p.Gly555Asp
XM_011522536.1:c.3842G>A	XP_011520838.1:p.Gly1281Asp
XM_011522537.1:c.842G>A	XP_011520839.1:p.Gly281Asp
XM_011522537.2:c.842G>A	XP_011520839.1:p.Gly281Asp
XM_024450298.1:c.3884G>A	XP_024306066.1:p.Gly1295Asp
XM_024450299.1:c.3812G>A	XP_024306067.1:p.Gly1271Asp
XM_024450300.1:c.3674G>A	XP_024306068.1:p.Gly1225Asp
XM_024450301.1:c.1760G>A	XP_024306069.1:p.Gly587Asp
XR_932867.1:n.3857G>A
XR_932868.1:n.3857G>A
XR_932869.1:n.3857G>A
XR_932870.1:n.3857G>A