Canonical Allele Identifier: CA394382723

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161538C>G (hg19) ; chr16:g.2111537C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111537C>G , CM000678.2:g.2111537C>G	GRCh38
NC_000016.9:g.2161538C>G , CM000678.1:g.2161538C>G	GRCh37
NC_000016.8:g.2101539C>G	NCBI36
NG_008617.1:g.29362G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3630G>C MANE Select	ENSP00000262304.4:p.Glu1210Asp
ENST00000262304.8:c.3630G>C	ENSP00000262304.4:p.Glu1210Asp
ENST00000415938.7:n.310+803G>C
ENST00000423118.5:c.3630G>C	ENSP00000399501.1:p.Glu1210Asp
ENST00000468674.5:n.430+803G>C
ENST00000469241.2:n.580G>C
ENST00000483024.1:c.233+279G>C
ENST00000483731.5:n.790+803G>C
ENST00000488185.2:c.473-3179G>C
ENST00000565639.6:n.773+803G>C
ENST00000568591.5:c.2226+803G>C	ENSP00000457162.1:n.2226+803G>C
ENST00000569983.5:n.421+803G>C
NM_000296.3:c.3630G>C	NP_000287.3:p.Glu1210Asp
NM_001009944.2:c.3630G>C	NP_001009944.2:p.Glu1210Asp
XM_005255370.2:c.585G>C	XP_005255427.1:p.Glu195Asp
XM_011522525.1:c.3708G>C	XP_011520827.1:p.Glu1236Asp
XM_011522526.1:c.3708G>C	XP_011520828.1:p.Glu1236Asp
XM_011522527.1:c.3708G>C	XP_011520829.1:p.Glu1236Asp
XM_011522528.1:c.3684G>C	XP_011520830.1:p.Glu1228Asp
XM_011522529.1:c.3684G>C	XP_011520831.1:p.Glu1228Asp
XM_011522530.1:c.3654G>C	XP_011520832.1:p.Glu1218Asp
XM_011522531.1:c.3636G>C	XP_011520833.1:p.Glu1212Asp
XM_011522532.1:c.3582G>C	XP_011520834.1:p.Glu1194Asp
XM_011522533.1:c.3501G>C	XP_011520835.1:p.Glu1167Asp
XM_011522534.1:c.3444G>C	XP_011520836.1:p.Glu1148Asp
XM_011522535.1:c.1530G>C	XP_011520837.1:p.Glu510Asp
XM_011522536.1:c.3708G>C	XP_011520838.1:p.Glu1236Asp
XM_011522537.1:c.708G>C	XP_011520839.1:p.Glu236Asp
XR_932867.1:n.3723G>C
XR_932868.1:n.3723G>C
XR_932869.1:n.3723G>C
XR_932870.1:n.3723G>C
XM_005255370.3:c.585G>C	XP_005255427.1:p.Glu195Asp
XM_011522528.3:c.3684G>C	XP_011520830.1:p.Glu1228Asp
XM_011522529.2:c.3684G>C	XP_011520831.1:p.Glu1228Asp
XM_011522537.2:c.708G>C	XP_011520839.1:p.Glu236Asp
XM_024450298.1:c.3750G>C	XP_024306066.1:p.Glu1250Asp
XM_024450299.1:c.3678G>C	XP_024306067.1:p.Glu1226Asp
XM_024450300.1:c.3540G>C	XP_024306068.1:p.Glu1180Asp
XM_024450301.1:c.1626G>C	XP_024306069.1:p.Glu542Asp
NM_000296.4:c.3630G>C	NP_000287.4:p.Glu1210Asp
NM_001009944.3:c.3630G>C MANE Select	NP_001009944.3:p.Glu1210Asp