Canonical Allele Identifier: CA394371216

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156658G>C (hg19) ; chr16:g.2106657G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106657G>C , CM000678.2:g.2106657G>C	GRCh38
NC_000016.9:g.2156658G>C , CM000678.1:g.2156658G>C	GRCh37
NC_000016.8:g.2096659G>C	NCBI36
NG_008617.1:g.34242C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7230C>G MANE Select	ENSP00000262304.4:p.Phe2410Leu
ENST00000262304.8:c.7230C>G	ENSP00000262304.4:p.Phe2410Leu
ENST00000415938.7:n.475C>G
ENST00000423118.5:c.7230C>G	ENSP00000399501.1:p.Phe2410Leu
ENST00000483024.1:c.398C>G
ENST00000483558.5:n.289C>G
ENST00000483731.5:n.955C>G
ENST00000486339.6:n.976C>G
ENST00000487932.5:c.1917C>G	ENSP00000457132.1:p.Phe639Leu
ENST00000496574.6:n.1233C>G
ENST00000565639.6:n.938C>G
ENST00000568591.5:c.2391C>G	ENSP00000457162.1:n.2391C>G
ENST00000569983.5:n.586C>G
NM_000296.3:c.7230C>G	NP_000287.3:p.Phe2410Leu
NM_001009944.2:c.7230C>G	NP_001009944.2:p.Phe2410Leu
XM_005255370.2:c.4185C>G	XP_005255427.1:p.Phe1395Leu
XM_011522525.1:c.7308C>G	XP_011520827.1:p.Phe2436Leu
XM_011522526.1:c.7308C>G	XP_011520828.1:p.Phe2436Leu
XM_011522527.1:c.7308C>G	XP_011520829.1:p.Phe2436Leu
XM_011522528.1:c.7284C>G	XP_011520830.1:p.Phe2428Leu
XM_011522529.1:c.7284C>G	XP_011520831.1:p.Phe2428Leu
XM_011522530.1:c.7254C>G	XP_011520832.1:p.Phe2418Leu
XM_011522531.1:c.7236C>G	XP_011520833.1:p.Phe2412Leu
XM_011522532.1:c.7182C>G	XP_011520834.1:p.Phe2394Leu
XM_011522533.1:c.7101C>G	XP_011520835.1:p.Phe2367Leu
XM_011522534.1:c.7044C>G	XP_011520836.1:p.Phe2348Leu
XM_011522535.1:c.5130C>G	XP_011520837.1:p.Phe1710Leu
XM_011522536.1:c.7308C>G	XP_011520838.1:p.Phe2436Leu
XM_011522537.1:c.4308C>G	XP_011520839.1:p.Phe1436Leu
XR_932867.1:n.7323C>G
XR_932868.1:n.7323C>G
XR_932869.1:n.7323C>G
XR_932870.1:n.7323C>G
XM_005255370.3:c.4185C>G	XP_005255427.1:p.Phe1395Leu
XM_011522528.3:c.7284C>G	XP_011520830.1:p.Phe2428Leu
XM_011522529.2:c.7284C>G	XP_011520831.1:p.Phe2428Leu
XM_011522537.2:c.4308C>G	XP_011520839.1:p.Phe1436Leu
XM_024450298.1:c.7350C>G	XP_024306066.1:p.Phe2450Leu
XM_024450299.1:c.7278C>G	XP_024306067.1:p.Phe2426Leu
XM_024450300.1:c.7140C>G	XP_024306068.1:p.Phe2380Leu
XM_024450301.1:c.5226C>G	XP_024306069.1:p.Phe1742Leu
NM_000296.4:c.7230C>G	NP_000287.4:p.Phe2410Leu
NM_001009944.3:c.7230C>G MANE Select	NP_001009944.3:p.Phe2410Leu