Canonical Allele Identifier: CA394336153

Gene: PKD1 PKD1-AS1

Linked Data

• COSMIC: COSM1301729
• MyVariant Identifiers: chr16:g.2142498T>A (hg19) ; chr16:g.2092497T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092497T>A , CM000678.2:g.2092497T>A	GRCh38
NC_000016.9:g.2142498T>A , CM000678.1:g.2142498T>A	GRCh37
NC_000016.8:g.2082499T>A	NCBI36
NG_008617.1:g.50724A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11252A>T (PKD1) MANE Select	ENSP00000262304.4:p.Gln3751Leu
ENST00000262304.8:c.11252A>T (PKD1)	ENSP00000262304.4:p.Gln3751Leu
ENST00000423118.5:c.11249A>T (PKD1)	ENSP00000399501.1:p.Gln3750Leu
ENST00000485120.1:n.101A>T (PKD1)
ENST00000487932.5:c.5814A>T (PKD1)	ENSP00000457132.1:n.5814A>T
ENST00000562425.1:c.365A>T (PKD1)
ENST00000567355.1:n.415A>T (PKD1)
NM_000296.3:c.11249A>T (PKD1)	NP_000287.3:p.Gln3750Leu
NM_001009944.2:c.11252A>T (PKD1)	NP_001009944.2:p.Gln3751Leu
XM_005255370.2:c.8207A>T (PKD1)	XP_005255427.1:p.Gln2736Leu
XM_011522525.1:c.11330A>T (PKD1)	XP_011520827.1:p.Gln3777Leu
XM_011522526.1:c.11327A>T (PKD1)	XP_011520828.1:p.Gln3776Leu
XM_011522527.1:c.11312A>T (PKD1)	XP_011520829.1:p.Gln3771Leu
XM_011522528.1:c.11306A>T (PKD1)	XP_011520830.1:p.Gln3769Leu
XM_011522529.1:c.11303A>T (PKD1)	XP_011520831.1:p.Gln3768Leu
XM_011522530.1:c.11276A>T (PKD1)	XP_011520832.1:p.Gln3759Leu
XM_011522531.1:c.11258A>T (PKD1)	XP_011520833.1:p.Gln3753Leu
XM_011522532.1:c.11204A>T (PKD1)	XP_011520834.1:p.Gln3735Leu
XM_011522533.1:c.11123A>T (PKD1)	XP_011520835.1:p.Gln3708Leu
XM_011522534.1:c.11066A>T (PKD1)	XP_011520836.1:p.Gln3689Leu
XM_011522535.1:c.9152A>T (PKD1)	XP_011520837.1:p.Gln3051Leu
XM_011522537.1:c.8330A>T (PKD1)	XP_011520839.1:p.Gln2777Leu
XR_932867.1:n.11345A>T (PKD1)
XR_932868.1:n.11110-309A>T (PKD1)
XR_932869.1:n.11110-309A>T (PKD1)
XR_932870.1:n.11205A>T (PKD1)
XR_933000.1:n.90-392T>A (PKD1-AS1)
XR_933001.1:n.180-392T>A (PKD1-AS1)
XR_933002.1:n.89-392T>A (PKD1-AS1)
XR_933003.1:n.89-392T>A (PKD1-AS1)
NR_135175.1:n.180-392T>A (PKD1-AS1)
XM_005255370.3:c.8207A>T (PKD1)	XP_005255427.1:p.Gln2736Leu
XM_011522528.3:c.11306A>T (PKD1)	XP_011520830.1:p.Gln3769Leu
XM_011522529.2:c.11303A>T (PKD1)	XP_011520831.1:p.Gln3768Leu
XM_011522537.2:c.8330A>T (PKD1)	XP_011520839.1:p.Gln2777Leu
XM_024450298.1:c.11372A>T (PKD1)	XP_024306066.1:p.Gln3791Leu
XM_024450299.1:c.11300A>T (PKD1)	XP_024306067.1:p.Gln3767Leu
XM_024450300.1:c.11162A>T (PKD1)	XP_024306068.1:p.Gln3721Leu
XM_024450301.1:c.9248A>T (PKD1)	XP_024306069.1:p.Gln3083Leu
NM_000296.4:c.11249A>T (PKD1)	NP_000287.4:p.Gln3750Leu
NM_001009944.3:c.11252A>T (PKD1) MANE Select	NP_001009944.3:p.Gln3751Leu