Canonical Allele Identifier: CA394383056

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111706-G-T
• MyVariant Identifiers: chr16:g.2161707G>T (hg19) ; chr16:g.2111706G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111706G>T , CM000678.2:g.2111706G>T	GRCh38
NC_000016.9:g.2161707G>T , CM000678.1:g.2161707G>T	GRCh37
NC_000016.8:g.2101708G>T	NCBI36
NG_008617.1:g.29193C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3461C>A MANE Select	ENSP00000262304.4:p.Pro1154His
ENST00000262304.8:c.3461C>A	ENSP00000262304.4:p.Pro1154His
ENST00000415938.7:n.310+634C>A
ENST00000423118.5:c.3461C>A	ENSP00000399501.1:p.Pro1154His
ENST00000468674.5:n.430+634C>A
ENST00000469241.2:n.411C>A
ENST00000483024.1:c.233+110C>A
ENST00000483731.5:n.790+634C>A
ENST00000488185.2:c.473-3348C>A
ENST00000565639.6:n.773+634C>A
ENST00000568591.5:c.2226+634C>A	ENSP00000457162.1:n.2226+634C>A
ENST00000569983.5:n.421+634C>A
NM_000296.3:c.3461C>A	NP_000287.3:p.Pro1154His
NM_001009944.2:c.3461C>A	NP_001009944.2:p.Pro1154His
XM_005255370.2:c.416C>A	XP_005255427.1:p.Pro139His
XM_011522525.1:c.3539C>A	XP_011520827.1:p.Pro1180His
XM_011522526.1:c.3539C>A	XP_011520828.1:p.Pro1180His
XM_011522527.1:c.3539C>A	XP_011520829.1:p.Pro1180His
XM_011522528.1:c.3515C>A	XP_011520830.1:p.Pro1172His
XM_011522529.1:c.3515C>A	XP_011520831.1:p.Pro1172His
XM_011522530.1:c.3485C>A	XP_011520832.1:p.Pro1162His
XM_011522531.1:c.3467C>A	XP_011520833.1:p.Pro1156His
XM_011522532.1:c.3413C>A	XP_011520834.1:p.Pro1138His
XM_011522533.1:c.3332C>A	XP_011520835.1:p.Pro1111His
XM_011522534.1:c.3275C>A	XP_011520836.1:p.Pro1092His
XM_011522535.1:c.1361C>A	XP_011520837.1:p.Pro454His
XM_011522536.1:c.3539C>A	XP_011520838.1:p.Pro1180His
XM_011522537.1:c.539C>A	XP_011520839.1:p.Pro180His
XR_932867.1:n.3554C>A
XR_932868.1:n.3554C>A
XR_932869.1:n.3554C>A
XR_932870.1:n.3554C>A
XM_005255370.3:c.416C>A	XP_005255427.1:p.Pro139His
XM_011522528.3:c.3515C>A	XP_011520830.1:p.Pro1172His
XM_011522529.2:c.3515C>A	XP_011520831.1:p.Pro1172His
XM_011522537.2:c.539C>A	XP_011520839.1:p.Pro180His
XM_024450298.1:c.3581C>A	XP_024306066.1:p.Pro1194His
XM_024450299.1:c.3509C>A	XP_024306067.1:p.Pro1170His
XM_024450300.1:c.3371C>A	XP_024306068.1:p.Pro1124His
XM_024450301.1:c.1457C>A	XP_024306069.1:p.Pro486His
NM_000296.4:c.3461C>A	NP_000287.4:p.Pro1154His
NM_001009944.3:c.3461C>A MANE Select	NP_001009944.3:p.Pro1154His