Canonical Allele Identifier: CA394382747

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111550-A-G
• MyVariant Identifiers: chr16:g.2161551A>G (hg19) ; chr16:g.2111550A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111550A>G , CM000678.2:g.2111550A>G	GRCh38
NC_000016.9:g.2161551A>G , CM000678.1:g.2161551A>G	GRCh37
NC_000016.8:g.2101552A>G	NCBI36
NG_008617.1:g.29349T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3617T>C MANE Select	ENSP00000262304.4:p.Val1206Ala
ENST00000262304.8:c.3617T>C	ENSP00000262304.4:p.Val1206Ala
ENST00000415938.7:n.310+790T>C
ENST00000423118.5:c.3617T>C	ENSP00000399501.1:p.Val1206Ala
ENST00000468674.5:n.430+790T>C
ENST00000469241.2:n.567T>C
ENST00000483024.1:c.233+266T>C
ENST00000483731.5:n.790+790T>C
ENST00000488185.2:c.473-3192T>C
ENST00000565639.6:n.773+790T>C
ENST00000568591.5:c.2226+790T>C	ENSP00000457162.1:n.2226+790T>C
ENST00000569983.5:n.421+790T>C
NM_000296.3:c.3617T>C	NP_000287.3:p.Val1206Ala
NM_001009944.2:c.3617T>C	NP_001009944.2:p.Val1206Ala
XM_005255370.2:c.572T>C	XP_005255427.1:p.Val191Ala
XM_011522525.1:c.3695T>C	XP_011520827.1:p.Val1232Ala
XM_011522526.1:c.3695T>C	XP_011520828.1:p.Val1232Ala
XM_011522527.1:c.3695T>C	XP_011520829.1:p.Val1232Ala
XM_011522528.1:c.3671T>C	XP_011520830.1:p.Val1224Ala
XM_011522529.1:c.3671T>C	XP_011520831.1:p.Val1224Ala
XM_011522530.1:c.3641T>C	XP_011520832.1:p.Val1214Ala
XM_011522531.1:c.3623T>C	XP_011520833.1:p.Val1208Ala
XM_011522532.1:c.3569T>C	XP_011520834.1:p.Val1190Ala
XM_011522533.1:c.3488T>C	XP_011520835.1:p.Val1163Ala
XM_011522534.1:c.3431T>C	XP_011520836.1:p.Val1144Ala
XM_011522535.1:c.1517T>C	XP_011520837.1:p.Val506Ala
XM_011522536.1:c.3695T>C	XP_011520838.1:p.Val1232Ala
XM_011522537.1:c.695T>C	XP_011520839.1:p.Val232Ala
XR_932867.1:n.3710T>C
XR_932868.1:n.3710T>C
XR_932869.1:n.3710T>C
XR_932870.1:n.3710T>C
XM_005255370.3:c.572T>C	XP_005255427.1:p.Val191Ala
XM_011522528.3:c.3671T>C	XP_011520830.1:p.Val1224Ala
XM_011522529.2:c.3671T>C	XP_011520831.1:p.Val1224Ala
XM_011522537.2:c.695T>C	XP_011520839.1:p.Val232Ala
XM_024450298.1:c.3737T>C	XP_024306066.1:p.Val1246Ala
XM_024450299.1:c.3665T>C	XP_024306067.1:p.Val1222Ala
XM_024450300.1:c.3527T>C	XP_024306068.1:p.Val1176Ala
XM_024450301.1:c.1613T>C	XP_024306069.1:p.Val538Ala
NM_000296.4:c.3617T>C	NP_000287.4:p.Val1206Ala
NM_001009944.3:c.3617T>C MANE Select	NP_001009944.3:p.Val1206Ala