Canonical Allele Identifier: CA394325774

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140452A>G (hg19) ; chr16:g.2090451A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090451A>G , CM000678.2:g.2090451A>G	GRCh38
NC_000016.9:g.2140452A>G , CM000678.1:g.2140452A>G	GRCh37
NC_000016.8:g.2080453A>G	NCBI36
NG_005895.1:g.46146A>G , LRG_487:g.46146A>G
NG_008617.1:g.52770T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12278T>C MANE Select	ENSP00000262304.4:p.Leu4093Pro
ENST00000262304.8:c.12278T>C	ENSP00000262304.4:p.Leu4093Pro
ENST00000423118.5:c.12275T>C	ENSP00000399501.1:p.Leu4092Pro
ENST00000472577.1:n.306T>C
NM_000296.3:c.12275T>C	NP_000287.3:p.Leu4092Pro
NM_001009944.2:c.12278T>C	NP_001009944.2:p.Leu4093Pro
XM_005255370.2:c.9233T>C	XP_005255427.1:p.Leu3078Pro
XM_011522525.1:c.12356T>C	XP_011520827.1:p.Leu4119Pro
XM_011522526.1:c.12353T>C	XP_011520828.1:p.Leu4118Pro
XM_011522527.1:c.12338T>C	XP_011520829.1:p.Leu4113Pro
XM_011522528.1:c.12332T>C	XP_011520830.1:p.Leu4111Pro
XM_011522529.1:c.12329T>C	XP_011520831.1:p.Leu4110Pro
XM_011522530.1:c.12302T>C	XP_011520832.1:p.Leu4101Pro
XM_011522531.1:c.12284T>C	XP_011520833.1:p.Leu4095Pro
XM_011522532.1:c.12230T>C	XP_011520834.1:p.Leu4077Pro
XM_011522533.1:c.12149T>C	XP_011520835.1:p.Leu4050Pro
XM_011522534.1:c.12092T>C	XP_011520836.1:p.Leu4031Pro
XM_011522535.1:c.10178T>C	XP_011520837.1:p.Leu3393Pro
XM_011522537.1:c.9356T>C	XP_011520839.1:p.Leu3119Pro
XR_932867.1:n.12196T>C
XM_005255370.3:c.9233T>C	XP_005255427.1:p.Leu3078Pro
XM_011522528.3:c.12332T>C	XP_011520830.1:p.Leu4111Pro
XM_011522529.2:c.12329T>C	XP_011520831.1:p.Leu4110Pro
XM_011522537.2:c.9356T>C	XP_011520839.1:p.Leu3119Pro
XM_024450298.1:c.12398T>C	XP_024306066.1:p.Leu4133Pro
XM_024450299.1:c.12326T>C	XP_024306067.1:p.Leu4109Pro
XM_024450300.1:c.12188T>C	XP_024306068.1:p.Leu4063Pro
XM_024450301.1:c.10274T>C	XP_024306069.1:p.Leu3425Pro
NM_000296.4:c.12275T>C	NP_000287.4:p.Leu4092Pro
NM_001009944.3:c.12278T>C MANE Select	NP_001009944.3:p.Leu4093Pro