Canonical Allele Identifier: CA394373321

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2108612G>T , CM000678.2:g.2108612G>T	GRCh38
NC_000016.9:g.2158613G>T , CM000678.1:g.2158613G>T	GRCh37
NC_000016.8:g.2098614G>T	NCBI36
NG_008617.1:g.32287C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.6555C>A MANE Select	NP_001009944.3:p.Tyr2185Ter
ENST00000262304.9:c.6555C>A MANE Select	ENSP00000262304.4:p.Tyr2185Ter
NM_000296.3:c.6555C>A	NP_000287.3:p.Tyr2185Ter
NM_000296.4:c.6555C>A	NP_000287.4:p.Tyr2185Ter
NM_001009944.2:c.6555C>A	NP_001009944.2:p.Tyr2185Ter
ENST00000262304.8:c.6555C>A	ENSP00000262304.4:p.Tyr2185Ter
ENST00000415938.7:n.311-1664C>A
ENST00000423118.5:c.6555C>A	ENSP00000399501.1:p.Tyr2185Ter
ENST00000483024.1:c.234-1664C>A
ENST00000483731.5:n.791-1664C>A
ENST00000487932.5:c.1242C>A	ENSP00000457132.1:p.Tyr414Ter
ENST00000488185.2:c.473-254C>A
ENST00000565639.6:n.774-1664C>A
ENST00000568591.5:c.2227-1664C>A	ENSP00000457162.1:n.2227-1664C>A
ENST00000569983.5:n.422-1664C>A
XM_005255370.2:c.3510C>A	XP_005255427.1:p.Tyr1170Ter
XM_005255370.3:c.3510C>A	XP_005255427.1:p.Tyr1170Ter
XM_011522525.1:c.6633C>A	XP_011520827.1:p.Tyr2211Ter
XM_011522526.1:c.6633C>A	XP_011520828.1:p.Tyr2211Ter
XM_011522527.1:c.6633C>A	XP_011520829.1:p.Tyr2211Ter
XM_011522528.1:c.6609C>A	XP_011520830.1:p.Tyr2203Ter
XM_011522528.3:c.6609C>A	XP_011520830.1:p.Tyr2203Ter
XM_011522529.1:c.6609C>A	XP_011520831.1:p.Tyr2203Ter
XM_011522529.2:c.6609C>A	XP_011520831.1:p.Tyr2203Ter
XM_011522530.1:c.6579C>A	XP_011520832.1:p.Tyr2193Ter
XM_011522531.1:c.6561C>A	XP_011520833.1:p.Tyr2187Ter
XM_011522532.1:c.6507C>A	XP_011520834.1:p.Tyr2169Ter
XM_011522533.1:c.6426C>A	XP_011520835.1:p.Tyr2142Ter
XM_011522534.1:c.6369C>A	XP_011520836.1:p.Tyr2123Ter
XM_011522535.1:c.4455C>A	XP_011520837.1:p.Tyr1485Ter
XM_011522536.1:c.6633C>A	XP_011520838.1:p.Tyr2211Ter
XM_011522537.1:c.3633C>A	XP_011520839.1:p.Tyr1211Ter
XM_011522537.2:c.3633C>A	XP_011520839.1:p.Tyr1211Ter
XM_024450298.1:c.6675C>A	XP_024306066.1:p.Tyr2225Ter
XM_024450299.1:c.6603C>A	XP_024306067.1:p.Tyr2201Ter
XM_024450300.1:c.6465C>A	XP_024306068.1:p.Tyr2155Ter
XM_024450301.1:c.4551C>A	XP_024306069.1:p.Tyr1517Ter
XR_932867.1:n.6648C>A
XR_932868.1:n.6648C>A
XR_932869.1:n.6648C>A
XR_932870.1:n.6648C>A