Canonical Allele Identifier: CA493049231

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111561-G-C
• MyVariant Identifiers: chr16:g.2161562G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111561G>C , CM000678.2:g.2111561G>C	GRCh38
NC_000016.9:g.2161562G>C , CM000678.1:g.2161562G>C	GRCh37
NC_000016.8:g.2101563G>C	NCBI36
NG_008617.1:g.29338C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3606C>G MANE Select	ENSP00000262304.4:p.Ala1202=
ENST00000262304.8:c.3606C>G	ENSP00000262304.4:p.Ala1202=
ENST00000415938.7:n.310+779C>G
ENST00000423118.5:c.3606C>G	ENSP00000399501.1:p.Ala1202=
ENST00000468674.5:n.430+779C>G
ENST00000469241.2:n.556C>G
ENST00000483024.1:c.233+255C>G
ENST00000483731.5:n.790+779C>G
ENST00000488185.2:c.473-3203C>G
ENST00000565639.6:n.773+779C>G
ENST00000568591.5:c.2226+779C>G	ENSP00000457162.1:n.2226+779C>G
ENST00000569983.5:n.421+779C>G
NM_000296.3:c.3606C>G	NP_000287.3:p.Ala1202=
NM_001009944.2:c.3606C>G	NP_001009944.2:p.Ala1202=
XM_005255370.2:c.561C>G	XP_005255427.1:p.Ala187=
XM_011522525.1:c.3684C>G	XP_011520827.1:p.Ala1228=
XM_011522526.1:c.3684C>G	XP_011520828.1:p.Ala1228=
XM_011522527.1:c.3684C>G	XP_011520829.1:p.Ala1228=
XM_011522528.1:c.3660C>G	XP_011520830.1:p.Ala1220=
XM_011522529.1:c.3660C>G	XP_011520831.1:p.Ala1220=
XM_011522530.1:c.3630C>G	XP_011520832.1:p.Ala1210=
XM_011522531.1:c.3612C>G	XP_011520833.1:p.Ala1204=
XM_011522532.1:c.3558C>G	XP_011520834.1:p.Ala1186=
XM_011522533.1:c.3477C>G	XP_011520835.1:p.Ala1159=
XM_011522534.1:c.3420C>G	XP_011520836.1:p.Ala1140=
XM_011522535.1:c.1506C>G	XP_011520837.1:p.Ala502=
XM_011522536.1:c.3684C>G	XP_011520838.1:p.Ala1228=
XM_011522537.1:c.684C>G	XP_011520839.1:p.Ala228=
XR_932867.1:n.3699C>G
XR_932868.1:n.3699C>G
XR_932869.1:n.3699C>G
XR_932870.1:n.3699C>G
XM_005255370.3:c.561C>G	XP_005255427.1:p.Ala187=
XM_011522528.3:c.3660C>G	XP_011520830.1:p.Ala1220=
XM_011522529.2:c.3660C>G	XP_011520831.1:p.Ala1220=
XM_011522537.2:c.684C>G	XP_011520839.1:p.Ala228=
XM_024450298.1:c.3726C>G	XP_024306066.1:p.Ala1242=
XM_024450299.1:c.3654C>G	XP_024306067.1:p.Ala1218=
XM_024450300.1:c.3516C>G	XP_024306068.1:p.Ala1172=
XM_024450301.1:c.1602C>G	XP_024306069.1:p.Ala534=
NM_000296.4:c.3606C>G	NP_000287.4:p.Ala1202=
NM_001009944.3:c.3606C>G MANE Select	NP_001009944.3:p.Ala1202=