Canonical Allele Identifier: CA394336157

Gene: PKD1 PKD1-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11252A>C (PKD1) MANE Select	ENSP00000262304.4:p.Gln3751Pro
ENST00000262304.8:c.11252A>C (PKD1)	ENSP00000262304.4:p.Gln3751Pro
ENST00000423118.5:c.11249A>C (PKD1)	ENSP00000399501.1:p.Gln3750Pro
ENST00000485120.1:n.101A>C (PKD1)
ENST00000487932.5:c.5814A>C (PKD1)	ENSP00000457132.1:n.5814A>C
ENST00000562425.1:c.365A>C (PKD1)
ENST00000567355.1:n.415A>C (PKD1)
NM_000296.3:c.11249A>C (PKD1)	NP_000287.3:p.Gln3750Pro
NM_001009944.2:c.11252A>C (PKD1)	NP_001009944.2:p.Gln3751Pro
XM_005255370.2:c.8207A>C (PKD1)	XP_005255427.1:p.Gln2736Pro
XM_011522525.1:c.11330A>C (PKD1)	XP_011520827.1:p.Gln3777Pro
XM_011522526.1:c.11327A>C (PKD1)	XP_011520828.1:p.Gln3776Pro
XM_011522527.1:c.11312A>C (PKD1)	XP_011520829.1:p.Gln3771Pro
XM_011522528.1:c.11306A>C (PKD1)	XP_011520830.1:p.Gln3769Pro
XM_011522529.1:c.11303A>C (PKD1)	XP_011520831.1:p.Gln3768Pro
XM_011522530.1:c.11276A>C (PKD1)	XP_011520832.1:p.Gln3759Pro
XM_011522531.1:c.11258A>C (PKD1)	XP_011520833.1:p.Gln3753Pro
XM_011522532.1:c.11204A>C (PKD1)	XP_011520834.1:p.Gln3735Pro
XM_011522533.1:c.11123A>C (PKD1)	XP_011520835.1:p.Gln3708Pro
XM_011522534.1:c.11066A>C (PKD1)	XP_011520836.1:p.Gln3689Pro
XM_011522535.1:c.9152A>C (PKD1)	XP_011520837.1:p.Gln3051Pro
XM_011522537.1:c.8330A>C (PKD1)	XP_011520839.1:p.Gln2777Pro
XR_932867.1:n.11345A>C (PKD1)
XR_932868.1:n.11110-309A>C (PKD1)
XR_932869.1:n.11110-309A>C (PKD1)
XR_932870.1:n.11205A>C (PKD1)
XR_933000.1:n.90-392T>G (PKD1-AS1)
XR_933001.1:n.180-392T>G (PKD1-AS1)
XR_933002.1:n.89-392T>G (PKD1-AS1)
XR_933003.1:n.89-392T>G (PKD1-AS1)
NR_135175.1:n.180-392T>G (PKD1-AS1)
XM_005255370.3:c.8207A>C (PKD1)	XP_005255427.1:p.Gln2736Pro
XM_011522528.3:c.11306A>C (PKD1)	XP_011520830.1:p.Gln3769Pro
XM_011522529.2:c.11303A>C (PKD1)	XP_011520831.1:p.Gln3768Pro
XM_011522537.2:c.8330A>C (PKD1)	XP_011520839.1:p.Gln2777Pro
XM_024450298.1:c.11372A>C (PKD1)	XP_024306066.1:p.Gln3791Pro
XM_024450299.1:c.11300A>C (PKD1)	XP_024306067.1:p.Gln3767Pro
XM_024450300.1:c.11162A>C (PKD1)	XP_024306068.1:p.Gln3721Pro
XM_024450301.1:c.9248A>C (PKD1)	XP_024306069.1:p.Gln3083Pro
NM_000296.4:c.11249A>C (PKD1)	NP_000287.4:p.Gln3750Pro
NM_001009944.3:c.11252A>C (PKD1) MANE Select	NP_001009944.3:p.Gln3751Pro