Canonical Allele Identifier: CA394382991

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161677C>G (hg19) ; chr16:g.2111676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111676C>G , CM000678.2:g.2111676C>G	GRCh38
NC_000016.9:g.2161677C>G , CM000678.1:g.2161677C>G	GRCh37
NC_000016.8:g.2101678C>G	NCBI36
NG_008617.1:g.29223G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3491G>C MANE Select	ENSP00000262304.4:p.Gly1164Ala
ENST00000262304.8:c.3491G>C	ENSP00000262304.4:p.Gly1164Ala
ENST00000415938.7:n.310+664G>C
ENST00000423118.5:c.3491G>C	ENSP00000399501.1:p.Gly1164Ala
ENST00000468674.5:n.430+664G>C
ENST00000469241.2:n.441G>C
ENST00000483024.1:c.233+140G>C
ENST00000483731.5:n.790+664G>C
ENST00000488185.2:c.473-3318G>C
ENST00000565639.6:n.773+664G>C
ENST00000568591.5:c.2226+664G>C	ENSP00000457162.1:n.2226+664G>C
ENST00000569983.5:n.421+664G>C
NM_000296.3:c.3491G>C	NP_000287.3:p.Gly1164Ala
NM_001009944.2:c.3491G>C	NP_001009944.2:p.Gly1164Ala
XM_005255370.2:c.446G>C	XP_005255427.1:p.Gly149Ala
XM_011522525.1:c.3569G>C	XP_011520827.1:p.Gly1190Ala
XM_011522526.1:c.3569G>C	XP_011520828.1:p.Gly1190Ala
XM_011522527.1:c.3569G>C	XP_011520829.1:p.Gly1190Ala
XM_011522528.1:c.3545G>C	XP_011520830.1:p.Gly1182Ala
XM_011522529.1:c.3545G>C	XP_011520831.1:p.Gly1182Ala
XM_011522530.1:c.3515G>C	XP_011520832.1:p.Gly1172Ala
XM_011522531.1:c.3497G>C	XP_011520833.1:p.Gly1166Ala
XM_011522532.1:c.3443G>C	XP_011520834.1:p.Gly1148Ala
XM_011522533.1:c.3362G>C	XP_011520835.1:p.Gly1121Ala
XM_011522534.1:c.3305G>C	XP_011520836.1:p.Gly1102Ala
XM_011522535.1:c.1391G>C	XP_011520837.1:p.Gly464Ala
XM_011522536.1:c.3569G>C	XP_011520838.1:p.Gly1190Ala
XM_011522537.1:c.569G>C	XP_011520839.1:p.Gly190Ala
XR_932867.1:n.3584G>C
XR_932868.1:n.3584G>C
XR_932869.1:n.3584G>C
XR_932870.1:n.3584G>C
XM_005255370.3:c.446G>C	XP_005255427.1:p.Gly149Ala
XM_011522528.3:c.3545G>C	XP_011520830.1:p.Gly1182Ala
XM_011522529.2:c.3545G>C	XP_011520831.1:p.Gly1182Ala
XM_011522537.2:c.569G>C	XP_011520839.1:p.Gly190Ala
XM_024450298.1:c.3611G>C	XP_024306066.1:p.Gly1204Ala
XM_024450299.1:c.3539G>C	XP_024306067.1:p.Gly1180Ala
XM_024450300.1:c.3401G>C	XP_024306068.1:p.Gly1134Ala
XM_024450301.1:c.1487G>C	XP_024306069.1:p.Gly496Ala
NM_000296.4:c.3491G>C	NP_000287.4:p.Gly1164Ala
NM_001009944.3:c.3491G>C MANE Select	NP_001009944.3:p.Gly1164Ala