Canonical Allele Identifier: CA394371173

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156649C>G (hg19) ; chr16:g.2106648C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106648C>G , CM000678.2:g.2106648C>G	GRCh38
NC_000016.9:g.2156649C>G , CM000678.1:g.2156649C>G	GRCh37
NC_000016.8:g.2096650C>G	NCBI36
NG_008617.1:g.34251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7239G>C MANE Select	ENSP00000262304.4:p.Lys2413Asn
ENST00000262304.8:c.7239G>C	ENSP00000262304.4:p.Lys2413Asn
ENST00000415938.7:n.484G>C
ENST00000423118.5:c.7239G>C	ENSP00000399501.1:p.Lys2413Asn
ENST00000483024.1:c.407G>C
ENST00000483558.5:n.298G>C
ENST00000483731.5:n.964G>C
ENST00000486339.6:n.985G>C
ENST00000487932.5:c.1926G>C	ENSP00000457132.1:p.Lys642Asn
ENST00000496574.6:n.1242G>C
ENST00000565639.6:n.947G>C
ENST00000568591.5:c.2400G>C	ENSP00000457162.1:n.2400G>C
ENST00000569983.5:n.595G>C
NM_000296.3:c.7239G>C	NP_000287.3:p.Lys2413Asn
NM_001009944.2:c.7239G>C	NP_001009944.2:p.Lys2413Asn
XM_005255370.2:c.4194G>C	XP_005255427.1:p.Lys1398Asn
XM_011522525.1:c.7317G>C	XP_011520827.1:p.Lys2439Asn
XM_011522526.1:c.7317G>C	XP_011520828.1:p.Lys2439Asn
XM_011522527.1:c.7317G>C	XP_011520829.1:p.Lys2439Asn
XM_011522528.1:c.7293G>C	XP_011520830.1:p.Lys2431Asn
XM_011522529.1:c.7293G>C	XP_011520831.1:p.Lys2431Asn
XM_011522530.1:c.7263G>C	XP_011520832.1:p.Lys2421Asn
XM_011522531.1:c.7245G>C	XP_011520833.1:p.Lys2415Asn
XM_011522532.1:c.7191G>C	XP_011520834.1:p.Lys2397Asn
XM_011522533.1:c.7110G>C	XP_011520835.1:p.Lys2370Asn
XM_011522534.1:c.7053G>C	XP_011520836.1:p.Lys2351Asn
XM_011522535.1:c.5139G>C	XP_011520837.1:p.Lys1713Asn
XM_011522536.1:c.7317G>C	XP_011520838.1:p.Lys2439Asn
XM_011522537.1:c.4317G>C	XP_011520839.1:p.Lys1439Asn
XR_932867.1:n.7332G>C
XR_932868.1:n.7332G>C
XR_932869.1:n.7332G>C
XR_932870.1:n.7332G>C
XM_005255370.3:c.4194G>C	XP_005255427.1:p.Lys1398Asn
XM_011522528.3:c.7293G>C	XP_011520830.1:p.Lys2431Asn
XM_011522529.2:c.7293G>C	XP_011520831.1:p.Lys2431Asn
XM_011522537.2:c.4317G>C	XP_011520839.1:p.Lys1439Asn
XM_024450298.1:c.7359G>C	XP_024306066.1:p.Lys2453Asn
XM_024450299.1:c.7287G>C	XP_024306067.1:p.Lys2429Asn
XM_024450300.1:c.7149G>C	XP_024306068.1:p.Lys2383Asn
XM_024450301.1:c.5235G>C	XP_024306069.1:p.Lys1745Asn
NM_000296.4:c.7239G>C	NP_000287.4:p.Lys2413Asn
NM_001009944.3:c.7239G>C MANE Select	NP_001009944.3:p.Lys2413Asn