Canonical Allele Identifier: CA7833174

Gene: PKD1

Linked Data

• dbSNP Id: rs780062360
• ExAC: 16:2164478 A / C
• gnomAD v2: 16-2164478-A-C
• gnomAD v4: 16-2114477-A-C
• MyVariant Identifiers: chr16:g.2164478A>C (hg19) ; chr16:g.2114477A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114477A>C , CM000678.2:g.2114477A>C	GRCh38
NC_000016.9:g.2164478A>C , CM000678.1:g.2164478A>C	GRCh37
NC_000016.8:g.2104479A>C	NCBI36
NG_008617.1:g.26422T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2546T>G MANE Select	ENSP00000262304.4:p.Val849Gly
ENST00000262304.8:c.2546T>G	ENSP00000262304.4:p.Val849Gly
ENST00000423118.5:c.2546T>G	ENSP00000399501.1:p.Val849Gly
ENST00000488185.2:c.472+3012T>G
ENST00000565639.6:n.5T>G
ENST00000568591.5:c.1477T>G	ENSP00000457162.1:n.1477T>G
NM_000296.3:c.2546T>G	NP_000287.3:p.Val849Gly
NM_001009944.2:c.2546T>G	NP_001009944.2:p.Val849Gly
XM_011522525.1:c.2600T>G	XP_011520827.1:p.Val867Gly
XM_011522526.1:c.2600T>G	XP_011520828.1:p.Val867Gly
XM_011522527.1:c.2600T>G	XP_011520829.1:p.Val867Gly
XM_011522528.1:c.2600T>G	XP_011520830.1:p.Val867Gly
XM_011522529.1:c.2600T>G	XP_011520831.1:p.Val867Gly
XM_011522530.1:c.2546T>G	XP_011520832.1:p.Val849Gly
XM_011522531.1:c.2528T>G	XP_011520833.1:p.Val843Gly
XM_011522532.1:c.2474T>G	XP_011520834.1:p.Val825Gly
XM_011522533.1:c.2393T>G	XP_011520835.1:p.Val798Gly
XM_011522534.1:c.2336T>G	XP_011520836.1:p.Val779Gly
XM_011522535.1:c.422T>G	XP_011520837.1:p.Val141Gly
XM_011522536.1:c.2600T>G	XP_011520838.1:p.Val867Gly
XR_932867.1:n.2615T>G
XR_932868.1:n.2615T>G
XR_932869.1:n.2615T>G
XR_932870.1:n.2615T>G
XM_005255370.3:c.-504T>G	XP_005255427.1:n.-504T>G
XM_011522528.3:c.2600T>G	XP_011520830.1:p.Val867Gly
XM_011522529.2:c.2600T>G	XP_011520831.1:p.Val867Gly
XM_024450298.1:c.2546T>G	XP_024306066.1:p.Val849Gly
XM_024450299.1:c.2474T>G	XP_024306067.1:p.Val825Gly
XM_024450300.1:c.2336T>G	XP_024306068.1:p.Val779Gly
XM_024450301.1:c.422T>G	XP_024306069.1:p.Val141Gly
NM_000296.4:c.2546T>G	NP_000287.4:p.Val849Gly
NM_001009944.3:c.2546T>G MANE Select	NP_001009944.3:p.Val849Gly