Canonical Allele Identifier: CA493049985

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161724C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111723C>G , CM000678.2:g.2111723C>G	GRCh38
NC_000016.9:g.2161724C>G , CM000678.1:g.2161724C>G	GRCh37
NC_000016.8:g.2101725C>G	NCBI36
NG_008617.1:g.29176G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3444G>C MANE Select	ENSP00000262304.4:p.Pro1148=
ENST00000262304.8:c.3444G>C	ENSP00000262304.4:p.Pro1148=
ENST00000415938.7:n.310+617G>C
ENST00000423118.5:c.3444G>C	ENSP00000399501.1:p.Pro1148=
ENST00000468674.5:n.430+617G>C
ENST00000469241.2:n.394G>C
ENST00000483024.1:c.233+93G>C
ENST00000483731.5:n.790+617G>C
ENST00000488185.2:c.473-3365G>C
ENST00000565639.6:n.773+617G>C
ENST00000568591.5:c.2226+617G>C	ENSP00000457162.1:n.2226+617G>C
ENST00000569983.5:n.421+617G>C
NM_000296.3:c.3444G>C	NP_000287.3:p.Pro1148=
NM_001009944.2:c.3444G>C	NP_001009944.2:p.Pro1148=
XM_005255370.2:c.399G>C	XP_005255427.1:p.Pro133=
XM_011522525.1:c.3522G>C	XP_011520827.1:p.Pro1174=
XM_011522526.1:c.3522G>C	XP_011520828.1:p.Pro1174=
XM_011522527.1:c.3522G>C	XP_011520829.1:p.Pro1174=
XM_011522528.1:c.3498G>C	XP_011520830.1:p.Pro1166=
XM_011522529.1:c.3498G>C	XP_011520831.1:p.Pro1166=
XM_011522530.1:c.3468G>C	XP_011520832.1:p.Pro1156=
XM_011522531.1:c.3450G>C	XP_011520833.1:p.Pro1150=
XM_011522532.1:c.3396G>C	XP_011520834.1:p.Pro1132=
XM_011522533.1:c.3315G>C	XP_011520835.1:p.Pro1105=
XM_011522534.1:c.3258G>C	XP_011520836.1:p.Pro1086=
XM_011522535.1:c.1344G>C	XP_011520837.1:p.Pro448=
XM_011522536.1:c.3522G>C	XP_011520838.1:p.Pro1174=
XM_011522537.1:c.522G>C	XP_011520839.1:p.Pro174=
XR_932867.1:n.3537G>C
XR_932868.1:n.3537G>C
XR_932869.1:n.3537G>C
XR_932870.1:n.3537G>C
XM_005255370.3:c.399G>C	XP_005255427.1:p.Pro133=
XM_011522528.3:c.3498G>C	XP_011520830.1:p.Pro1166=
XM_011522529.2:c.3498G>C	XP_011520831.1:p.Pro1166=
XM_011522537.2:c.522G>C	XP_011520839.1:p.Pro174=
XM_024450298.1:c.3564G>C	XP_024306066.1:p.Pro1188=
XM_024450299.1:c.3492G>C	XP_024306067.1:p.Pro1164=
XM_024450300.1:c.3354G>C	XP_024306068.1:p.Pro1118=
XM_024450301.1:c.1440G>C	XP_024306069.1:p.Pro480=
NM_000296.4:c.3444G>C	NP_000287.4:p.Pro1148=
NM_001009944.3:c.3444G>C MANE Select	NP_001009944.3:p.Pro1148=