Canonical Allele Identifier: CA394325654

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140437G>T (hg19) ; chr16:g.2090436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090436G>T , CM000678.2:g.2090436G>T	GRCh38
NC_000016.9:g.2140437G>T , CM000678.1:g.2140437G>T	GRCh37
NC_000016.8:g.2080438G>T	NCBI36
NG_005895.1:g.46131G>T , LRG_487:g.46131G>T
NG_008617.1:g.52785C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12293C>A MANE Select	ENSP00000262304.4:p.Ala4098Asp
ENST00000262304.8:c.12293C>A	ENSP00000262304.4:p.Ala4098Asp
ENST00000423118.5:c.12290C>A	ENSP00000399501.1:p.Ala4097Asp
ENST00000472577.1:n.321C>A
NM_000296.3:c.12290C>A	NP_000287.3:p.Ala4097Asp
NM_001009944.2:c.12293C>A	NP_001009944.2:p.Ala4098Asp
XM_005255370.2:c.9248C>A	XP_005255427.1:p.Ala3083Asp
XM_011522525.1:c.12371C>A	XP_011520827.1:p.Ala4124Asp
XM_011522526.1:c.12368C>A	XP_011520828.1:p.Ala4123Asp
XM_011522527.1:c.12353C>A	XP_011520829.1:p.Ala4118Asp
XM_011522528.1:c.12347C>A	XP_011520830.1:p.Ala4116Asp
XM_011522529.1:c.12344C>A	XP_011520831.1:p.Ala4115Asp
XM_011522530.1:c.12317C>A	XP_011520832.1:p.Ala4106Asp
XM_011522531.1:c.12299C>A	XP_011520833.1:p.Ala4100Asp
XM_011522532.1:c.12245C>A	XP_011520834.1:p.Ala4082Asp
XM_011522533.1:c.12164C>A	XP_011520835.1:p.Ala4055Asp
XM_011522534.1:c.12107C>A	XP_011520836.1:p.Ala4036Asp
XM_011522535.1:c.10193C>A	XP_011520837.1:p.Ala3398Asp
XM_011522537.1:c.9371C>A	XP_011520839.1:p.Ala3124Asp
XR_932867.1:n.12211C>A
XM_005255370.3:c.9248C>A	XP_005255427.1:p.Ala3083Asp
XM_011522528.3:c.12347C>A	XP_011520830.1:p.Ala4116Asp
XM_011522529.2:c.12344C>A	XP_011520831.1:p.Ala4115Asp
XM_011522537.2:c.9371C>A	XP_011520839.1:p.Ala3124Asp
XM_024450298.1:c.12413C>A	XP_024306066.1:p.Ala4138Asp
XM_024450299.1:c.12341C>A	XP_024306067.1:p.Ala4114Asp
XM_024450300.1:c.12203C>A	XP_024306068.1:p.Ala4068Asp
XM_024450301.1:c.10289C>A	XP_024306069.1:p.Ala3430Asp
NM_000296.4:c.12290C>A	NP_000287.4:p.Ala4097Asp
NM_001009944.3:c.12293C>A MANE Select	NP_001009944.3:p.Ala4098Asp