Canonical Allele Identifier: CA394382976

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161669A>C (hg19) ; chr16:g.2111668A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111668A>C , CM000678.2:g.2111668A>C	GRCh38
NC_000016.9:g.2161669A>C , CM000678.1:g.2161669A>C	GRCh37
NC_000016.8:g.2101670A>C	NCBI36
NG_008617.1:g.29231T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3499T>G MANE Select	ENSP00000262304.4:p.Ser1167Ala
ENST00000262304.8:c.3499T>G	ENSP00000262304.4:p.Ser1167Ala
ENST00000415938.7:n.310+672T>G
ENST00000423118.5:c.3499T>G	ENSP00000399501.1:p.Ser1167Ala
ENST00000468674.5:n.430+672T>G
ENST00000469241.2:n.449T>G
ENST00000483024.1:c.233+148T>G
ENST00000483731.5:n.790+672T>G
ENST00000488185.2:c.473-3310T>G
ENST00000565639.6:n.773+672T>G
ENST00000568591.5:c.2226+672T>G	ENSP00000457162.1:n.2226+672T>G
ENST00000569983.5:n.421+672T>G
NM_000296.3:c.3499T>G	NP_000287.3:p.Ser1167Ala
NM_001009944.2:c.3499T>G	NP_001009944.2:p.Ser1167Ala
XM_005255370.2:c.454T>G	XP_005255427.1:p.Ser152Ala
XM_011522525.1:c.3577T>G	XP_011520827.1:p.Ser1193Ala
XM_011522526.1:c.3577T>G	XP_011520828.1:p.Ser1193Ala
XM_011522527.1:c.3577T>G	XP_011520829.1:p.Ser1193Ala
XM_011522528.1:c.3553T>G	XP_011520830.1:p.Ser1185Ala
XM_011522529.1:c.3553T>G	XP_011520831.1:p.Ser1185Ala
XM_011522530.1:c.3523T>G	XP_011520832.1:p.Ser1175Ala
XM_011522531.1:c.3505T>G	XP_011520833.1:p.Ser1169Ala
XM_011522532.1:c.3451T>G	XP_011520834.1:p.Ser1151Ala
XM_011522533.1:c.3370T>G	XP_011520835.1:p.Ser1124Ala
XM_011522534.1:c.3313T>G	XP_011520836.1:p.Ser1105Ala
XM_011522535.1:c.1399T>G	XP_011520837.1:p.Ser467Ala
XM_011522536.1:c.3577T>G	XP_011520838.1:p.Ser1193Ala
XM_011522537.1:c.577T>G	XP_011520839.1:p.Ser193Ala
XR_932867.1:n.3592T>G
XR_932868.1:n.3592T>G
XR_932869.1:n.3592T>G
XR_932870.1:n.3592T>G
XM_005255370.3:c.454T>G	XP_005255427.1:p.Ser152Ala
XM_011522528.3:c.3553T>G	XP_011520830.1:p.Ser1185Ala
XM_011522529.2:c.3553T>G	XP_011520831.1:p.Ser1185Ala
XM_011522537.2:c.577T>G	XP_011520839.1:p.Ser193Ala
XM_024450298.1:c.3619T>G	XP_024306066.1:p.Ser1207Ala
XM_024450299.1:c.3547T>G	XP_024306067.1:p.Ser1183Ala
XM_024450300.1:c.3409T>G	XP_024306068.1:p.Ser1137Ala
XM_024450301.1:c.1495T>G	XP_024306069.1:p.Ser499Ala
NM_000296.4:c.3499T>G	NP_000287.4:p.Ser1167Ala
NM_001009944.3:c.3499T>G MANE Select	NP_001009944.3:p.Ser1167Ala