Canonical Allele Identifier: CA394365188

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2153851G>T (hg19) ; chr16:g.2103850G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103850G>T , CM000678.2:g.2103850G>T	GRCh38
NC_000016.9:g.2153851G>T , CM000678.1:g.2153851G>T	GRCh37
NC_000016.8:g.2093852G>T	NCBI36
NG_008617.1:g.39371C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.8207C>A MANE Select	ENSP00000262304.4:p.Pro2736His
ENST00000262304.8:c.8207C>A	ENSP00000262304.4:p.Pro2736His
ENST00000415938.7:n.1452C>A
ENST00000423118.5:c.8207C>A	ENSP00000399501.1:p.Pro2736His
ENST00000483731.5:n.1932C>A
ENST00000486339.6:n.2343C>A
ENST00000487932.5:c.2894C>A	ENSP00000457132.1:p.Pro965His
ENST00000496574.6:n.2443C>A
ENST00000561991.5:n.729C>A
ENST00000565639.6:n.1915C>A
ENST00000567946.1:c.268C>A
NM_000296.3:c.8207C>A	NP_000287.3:p.Pro2736His
NM_001009944.2:c.8207C>A	NP_001009944.2:p.Pro2736His
XM_005255370.2:c.5162C>A	XP_005255427.1:p.Pro1721His
XM_011522525.1:c.8285C>A	XP_011520827.1:p.Pro2762His
XM_011522526.1:c.8285C>A	XP_011520828.1:p.Pro2762His
XM_011522527.1:c.8285C>A	XP_011520829.1:p.Pro2762His
XM_011522528.1:c.8261C>A	XP_011520830.1:p.Pro2754His
XM_011522529.1:c.8261C>A	XP_011520831.1:p.Pro2754His
XM_011522530.1:c.8231C>A	XP_011520832.1:p.Pro2744His
XM_011522531.1:c.8213C>A	XP_011520833.1:p.Pro2738His
XM_011522532.1:c.8159C>A	XP_011520834.1:p.Pro2720His
XM_011522533.1:c.8078C>A	XP_011520835.1:p.Pro2693His
XM_011522534.1:c.8021C>A	XP_011520836.1:p.Pro2674His
XM_011522535.1:c.6107C>A	XP_011520837.1:p.Pro2036His
XM_011522536.1:c.8285C>A	XP_011520838.1:p.Pro2762His
XM_011522537.1:c.5285C>A	XP_011520839.1:p.Pro1762His
XR_932867.1:n.8300C>A
XR_932868.1:n.8300C>A
XR_932869.1:n.8300C>A
XR_932870.1:n.8300C>A
XM_005255370.3:c.5162C>A	XP_005255427.1:p.Pro1721His
XM_011522528.3:c.8261C>A	XP_011520830.1:p.Pro2754His
XM_011522529.2:c.8261C>A	XP_011520831.1:p.Pro2754His
XM_011522537.2:c.5285C>A	XP_011520839.1:p.Pro1762His
XM_024450298.1:c.8327C>A	XP_024306066.1:p.Pro2776His
XM_024450299.1:c.8255C>A	XP_024306067.1:p.Pro2752His
XM_024450300.1:c.8117C>A	XP_024306068.1:p.Pro2706His
XM_024450301.1:c.6203C>A	XP_024306069.1:p.Pro2068His
NM_000296.4:c.8207C>A	NP_000287.4:p.Pro2736His
NM_001009944.3:c.8207C>A MANE Select	NP_001009944.3:p.Pro2736His