Canonical Allele Identifier: CA2202033642

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2097227G= , CM000678.2:g.2097227G=	GRCh38
NC_000016.9:g.2147228G= , CM000678.1:g.2147228G=	GRCh37
NC_000016.8:g.2087229G=	NCBI36
NG_008617.1:g.45994C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.10420C= MANE Select	NP_001009944.3:p.Gln3474=
ENST00000262304.9:c.10420C= MANE Select	ENSP00000262304.4:p.Gln3474=
NM_000296.3:c.10417C=	NP_000287.3:p.Gln3473=
NM_000296.4:c.10417C=	NP_000287.4:p.Gln3473=
NM_001009944.2:c.10420C=	NP_001009944.2:p.Gln3474=
ENST00000262304.8:c.10420C=	ENSP00000262304.4:p.Gln3474=
ENST00000423118.5:c.10417C=	ENSP00000399501.1:p.Gln3473=
ENST00000487932.5:c.4982C=	ENSP00000457132.1:n.4982C=
XM_005255370.2:c.7375C=	XP_005255427.1:p.Gln2459=
XM_005255370.3:c.7375C=	XP_005255427.1:p.Gln2459=
XM_011522525.1:c.10498C=	XP_011520827.1:p.Gln3500=
XM_011522526.1:c.10495C=	XP_011520828.1:p.Gln3499=
XM_011522527.1:c.10480C=	XP_011520829.1:p.Gln3494=
XM_011522528.1:c.10474C=	XP_011520830.1:p.Gln3492=
XM_011522528.3:c.10474C=	XP_011520830.1:p.Gln3492=
XM_011522529.1:c.10471C=	XP_011520831.1:p.Gln3491=
XM_011522529.2:c.10471C=	XP_011520831.1:p.Gln3491=
XM_011522530.1:c.10444C=	XP_011520832.1:p.Gln3482=
XM_011522531.1:c.10426C=	XP_011520833.1:p.Gln3476=
XM_011522532.1:c.10372C=	XP_011520834.1:p.Gln3458=
XM_011522533.1:c.10291C=	XP_011520835.1:p.Gln3431=
XM_011522534.1:c.10234C=	XP_011520836.1:p.Gln3412=
XM_011522535.1:c.8320C=	XP_011520837.1:p.Gln2774=
XM_011522537.1:c.7498C=	XP_011520839.1:p.Gln2500=
XM_011522537.2:c.7498C=	XP_011520839.1:p.Gln2500=
XM_024450298.1:c.10540C=	XP_024306066.1:p.Gln3514=
XM_024450299.1:c.10468C=	XP_024306067.1:p.Gln3490=
XM_024450300.1:c.10330C=	XP_024306068.1:p.Gln3444=
XM_024450301.1:c.8416C=	XP_024306069.1:p.Gln2806=
XR_932867.1:n.10513C=
XR_932868.1:n.10513C=
XR_932869.1:n.10513C=
XR_932870.1:n.10513C=