Canonical Allele Identifier: CA7833454

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2116578G>A , CM000678.2:g.2116578G>A	GRCh38
NC_000016.9:g.2166579G>A , CM000678.1:g.2166579G>A	GRCh37
NC_000016.8:g.2106580G>A	NCBI36
NG_008617.1:g.24321C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.1673C>T MANE Select	NP_001009944.3:p.Thr558Met
ENST00000262304.9:c.1673C>T MANE Select	ENSP00000262304.4:p.Thr558Met
NM_000296.3:c.1673C>T	NP_000287.3:p.Thr558Met
NM_000296.4:c.1673C>T	NP_000287.4:p.Thr558Met
NM_001009944.2:c.1673C>T	NP_001009944.2:p.Thr558Met
ENST00000262304.8:c.1673C>T	ENSP00000262304.4:p.Thr558Met
ENST00000423118.5:c.1673C>T	ENSP00000399501.1:p.Thr558Met
ENST00000488185.2:c.472+911C>T
ENST00000568591.5:c.604C>T	ENSP00000457162.1:n.604C>T
XM_011522525.1:c.1727C>T	XP_011520827.1:p.Thr576Met
XM_011522526.1:c.1727C>T	XP_011520828.1:p.Thr576Met
XM_011522527.1:c.1727C>T	XP_011520829.1:p.Thr576Met
XM_011522528.1:c.1727C>T	XP_011520830.1:p.Thr576Met
XM_011522528.3:c.1727C>T	XP_011520830.1:p.Thr576Met
XM_011522529.1:c.1727C>T	XP_011520831.1:p.Thr576Met
XM_011522529.2:c.1727C>T	XP_011520831.1:p.Thr576Met
XM_011522530.1:c.1673C>T	XP_011520832.1:p.Thr558Met
XM_011522531.1:c.1655C>T	XP_011520833.1:p.Thr552Met
XM_011522532.1:c.1601C>T	XP_011520834.1:p.Thr534Met
XM_011522533.1:c.1520C>T	XP_011520835.1:p.Thr507Met
XM_011522534.1:c.1463C>T	XP_011520836.1:p.Thr488Met
XM_011522536.1:c.1727C>T	XP_011520838.1:p.Thr576Met
XM_024450298.1:c.1673C>T	XP_024306066.1:p.Thr558Met
XM_024450299.1:c.1601C>T	XP_024306067.1:p.Thr534Met
XM_024450300.1:c.1463C>T	XP_024306068.1:p.Thr488Met
XR_932867.1:n.1742C>T
XR_932868.1:n.1742C>T
XR_932869.1:n.1742C>T
XR_932870.1:n.1742C>T