Canonical Allele Identifier: CA394325217

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140386C>A (hg19) ; chr16:g.2090385C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090385C>A , CM000678.2:g.2090385C>A	GRCh38
NC_000016.9:g.2140386C>A , CM000678.1:g.2140386C>A	GRCh37
NC_000016.8:g.2080387C>A	NCBI36
NG_005895.1:g.46080C>A , LRG_487:g.46080C>A
NG_008617.1:g.52836G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12344G>T MANE Select	ENSP00000262304.4:p.Gly4115Val
ENST00000262304.8:c.12344G>T	ENSP00000262304.4:p.Gly4115Val
ENST00000423118.5:c.12341G>T	ENSP00000399501.1:p.Gly4114Val
ENST00000472577.1:n.372G>T
NM_000296.3:c.12341G>T	NP_000287.3:p.Gly4114Val
NM_001009944.2:c.12344G>T	NP_001009944.2:p.Gly4115Val
XM_005255370.2:c.9299G>T	XP_005255427.1:p.Gly3100Val
XM_011522525.1:c.12422G>T	XP_011520827.1:p.Gly4141Val
XM_011522526.1:c.12419G>T	XP_011520828.1:p.Gly4140Val
XM_011522527.1:c.12404G>T	XP_011520829.1:p.Gly4135Val
XM_011522528.1:c.12398G>T	XP_011520830.1:p.Gly4133Val
XM_011522529.1:c.12395G>T	XP_011520831.1:p.Gly4132Val
XM_011522530.1:c.12368G>T	XP_011520832.1:p.Gly4123Val
XM_011522531.1:c.12350G>T	XP_011520833.1:p.Gly4117Val
XM_011522532.1:c.12296G>T	XP_011520834.1:p.Gly4099Val
XM_011522533.1:c.12215G>T	XP_011520835.1:p.Gly4072Val
XM_011522534.1:c.12158G>T	XP_011520836.1:p.Gly4053Val
XM_011522535.1:c.10244G>T	XP_011520837.1:p.Gly3415Val
XM_011522537.1:c.9422G>T	XP_011520839.1:p.Gly3141Val
XR_932867.1:n.12262G>T
XM_005255370.3:c.9299G>T	XP_005255427.1:p.Gly3100Val
XM_011522528.3:c.12398G>T	XP_011520830.1:p.Gly4133Val
XM_011522529.2:c.12395G>T	XP_011520831.1:p.Gly4132Val
XM_011522537.2:c.9422G>T	XP_011520839.1:p.Gly3141Val
XM_024450298.1:c.12464G>T	XP_024306066.1:p.Gly4155Val
XM_024450299.1:c.12392G>T	XP_024306067.1:p.Gly4131Val
XM_024450300.1:c.12254G>T	XP_024306068.1:p.Gly4085Val
XM_024450301.1:c.10340G>T	XP_024306069.1:p.Gly3447Val
NM_000296.4:c.12341G>T	NP_000287.4:p.Gly4114Val
NM_001009944.3:c.12344G>T MANE Select	NP_001009944.3:p.Gly4115Val