Canonical Allele Identifier: CA394370071

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156540C>G (hg19) ; chr16:g.2106539C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106539C>G , CM000678.2:g.2106539C>G	GRCh38
NC_000016.9:g.2156540C>G , CM000678.1:g.2156540C>G	GRCh37
NC_000016.8:g.2096541C>G	NCBI36
NG_008617.1:g.34360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7348G>C MANE Select	ENSP00000262304.4:p.Val2450Leu
ENST00000262304.8:c.7348G>C	ENSP00000262304.4:p.Val2450Leu
ENST00000415938.7:n.593G>C
ENST00000423118.5:c.7348G>C	ENSP00000399501.1:p.Val2450Leu
ENST00000483558.5:n.407G>C
ENST00000483731.5:n.1073G>C
ENST00000486339.6:n.1094G>C
ENST00000487932.5:c.2035G>C	ENSP00000457132.1:p.Val679Leu
ENST00000496574.6:n.1351G>C
ENST00000565639.6:n.1056G>C
ENST00000568591.5:c.2509G>C	ENSP00000457162.1:n.2509G>C
ENST00000569983.5:n.704G>C
NM_000296.3:c.7348G>C	NP_000287.3:p.Val2450Leu
NM_001009944.2:c.7348G>C	NP_001009944.2:p.Val2450Leu
XM_005255370.2:c.4303G>C	XP_005255427.1:p.Val1435Leu
XM_011522525.1:c.7426G>C	XP_011520827.1:p.Val2476Leu
XM_011522526.1:c.7426G>C	XP_011520828.1:p.Val2476Leu
XM_011522527.1:c.7426G>C	XP_011520829.1:p.Val2476Leu
XM_011522528.1:c.7402G>C	XP_011520830.1:p.Val2468Leu
XM_011522529.1:c.7402G>C	XP_011520831.1:p.Val2468Leu
XM_011522530.1:c.7372G>C	XP_011520832.1:p.Val2458Leu
XM_011522531.1:c.7354G>C	XP_011520833.1:p.Val2452Leu
XM_011522532.1:c.7300G>C	XP_011520834.1:p.Val2434Leu
XM_011522533.1:c.7219G>C	XP_011520835.1:p.Val2407Leu
XM_011522534.1:c.7162G>C	XP_011520836.1:p.Val2388Leu
XM_011522535.1:c.5248G>C	XP_011520837.1:p.Val1750Leu
XM_011522536.1:c.7426G>C	XP_011520838.1:p.Val2476Leu
XM_011522537.1:c.4426G>C	XP_011520839.1:p.Val1476Leu
XR_932867.1:n.7441G>C
XR_932868.1:n.7441G>C
XR_932869.1:n.7441G>C
XR_932870.1:n.7441G>C
XM_005255370.3:c.4303G>C	XP_005255427.1:p.Val1435Leu
XM_011522528.3:c.7402G>C	XP_011520830.1:p.Val2468Leu
XM_011522529.2:c.7402G>C	XP_011520831.1:p.Val2468Leu
XM_011522537.2:c.4426G>C	XP_011520839.1:p.Val1476Leu
XM_024450298.1:c.7468G>C	XP_024306066.1:p.Val2490Leu
XM_024450299.1:c.7396G>C	XP_024306067.1:p.Val2466Leu
XM_024450300.1:c.7258G>C	XP_024306068.1:p.Val2420Leu
XM_024450301.1:c.5344G>C	XP_024306069.1:p.Val1782Leu
NM_000296.4:c.7348G>C	NP_000287.4:p.Val2450Leu
NM_001009944.3:c.7348G>C MANE Select	NP_001009944.3:p.Val2450Leu