Canonical Allele Identifier: CA394394748

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2118352A>T , CM000678.2:g.2118352A>T	GRCh38
NC_000016.9:g.2168353A>T , CM000678.1:g.2168353A>T	GRCh37
NC_000016.8:g.2108354A>T	NCBI36
NG_008617.1:g.22547T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.640T>A MANE Select	NP_001009944.3:p.Cys214Ser
ENST00000262304.9:c.640T>A MANE Select	ENSP00000262304.4:p.Cys214Ser
NM_000296.3:c.640T>A	NP_000287.3:p.Cys214Ser
NM_000296.4:c.640T>A	NP_000287.4:p.Cys214Ser
NM_001009944.2:c.640T>A	NP_001009944.2:p.Cys214Ser
ENST00000262304.8:c.640T>A	ENSP00000262304.4:p.Cys214Ser
ENST00000423118.5:c.640T>A	ENSP00000399501.1:p.Cys214Ser
XM_011522525.1:c.694T>A	XP_011520827.1:p.Cys232Ser
XM_011522526.1:c.694T>A	XP_011520828.1:p.Cys232Ser
XM_011522527.1:c.694T>A	XP_011520829.1:p.Cys232Ser
XM_011522528.1:c.694T>A	XP_011520830.1:p.Cys232Ser
XM_011522528.3:c.694T>A	XP_011520830.1:p.Cys232Ser
XM_011522529.1:c.694T>A	XP_011520831.1:p.Cys232Ser
XM_011522529.2:c.694T>A	XP_011520831.1:p.Cys232Ser
XM_011522530.1:c.640T>A	XP_011520832.1:p.Cys214Ser
XM_011522531.1:c.622T>A	XP_011520833.1:p.Cys208Ser
XM_011522532.1:c.568T>A	XP_011520834.1:p.Cys190Ser
XM_011522533.1:c.487T>A	XP_011520835.1:p.Cys163Ser
XM_011522534.1:c.430T>A	XP_011520836.1:p.Cys144Ser
XM_011522536.1:c.694T>A	XP_011520838.1:p.Cys232Ser
XM_024450298.1:c.640T>A	XP_024306066.1:p.Cys214Ser
XM_024450299.1:c.568T>A	XP_024306067.1:p.Cys190Ser
XM_024450300.1:c.430T>A	XP_024306068.1:p.Cys144Ser
XR_932867.1:n.709T>A
XR_932868.1:n.709T>A
XR_932869.1:n.709T>A
XR_932870.1:n.709T>A