Canonical Allele Identifier: CA11050343

Gene: AGAP1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.235886699A>C , CM000664.2:g.235886699A>C	GRCh38
NC_000002.11:g.236795343A>C , CM000664.1:g.236795343A>C	GRCh37
NC_000002.10:g.236460082A>C	NCBI36
NG_030314.1:g.397611A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418654.2:c.1155+3250A>C	ENSP00000393838.2:n.1155+3250A>C
ENST00000448025.6:c.1155+3250A>C	ENSP00000403482.2:n.1155+3250A>C
ENST00000635100.2:c.1167+3250A>C	ENSP00000489496.2:n.1167+3250A>C
ENST00000699337.1:c.1167+3250A>C	ENSP00000514311.1:n.1167+3250A>C
ENST00000304032.13:c.1155+3250A>C MANE Select	ENSP00000307634.7:n.1155+3250A>C
ENST00000304032.12:c.1155+3250A>C	ENSP00000307634.7:n.1155+3250A>C
ENST00000336665.9:c.1155+3250A>C	ENSP00000338378.5:n.1155+3250A>C
ENST00000409538.5:c.1950+3250A>C	ENSP00000386897.1:n.1950+3250A>C
ENST00000428334.6:c.993+3250A>C	ENSP00000411824.3:n.993+3250A>C
ENST00000448025.5:c.55+3250A>C
ENST00000614409.4:c.993+3250A>C	ENSP00000484463.1:n.993+3250A>C
ENST00000635100.1:c.1141+3250A>C	ENSP00000489496.1:n.1141+3250A>C
NM_001037131.2:c.1155+3250A>C	NP_001032208.1:n.1155+3250A>C
NM_014914.4:c.1155+3250A>C	NP_055729.2:n.1155+3250A>C
XM_005246059.3:c.1167+3250A>C	XP_005246116.1:n.1167+3250A>C
XM_006712234.2:c.1167+3250A>C	XP_006712297.1:n.1167+3250A>C
XM_006712235.2:c.1155+3250A>C	XP_006712298.1:n.1155+3250A>C
XM_006712237.2:c.1950+3250A>C	XP_006712300.2:n.1950+3250A>C
XM_006712239.2:c.1962+3250A>C	XP_006712302.2:n.1962+3250A>C
XM_011510547.1:c.1962+3250A>C	XP_011508849.1:n.1962+3250A>C
XM_011510548.1:c.1962+3250A>C	XP_011508850.1:n.1962+3250A>C
XM_011510549.1:c.1962+3250A>C	XP_011508851.1:n.1962+3250A>C
XM_005246059.4:c.1167+3250A>C	XP_005246116.1:n.1167+3250A>C
XM_006712234.3:c.1167+3250A>C	XP_006712297.1:n.1167+3250A>C
XM_006712235.3:c.1155+3250A>C	XP_006712298.1:n.1155+3250A>C
XM_006712237.3:c.1950+3250A>C	XP_006712300.2:n.1950+3250A>C
XM_006712239.3:c.1962+3250A>C	XP_006712302.2:n.1962+3250A>C
XM_011510547.2:c.1962+3250A>C	XP_011508849.1:n.1962+3250A>C
XM_011510548.2:c.1962+3250A>C	XP_011508850.1:n.1962+3250A>C
XM_011510549.2:c.1962+3250A>C	XP_011508851.1:n.1962+3250A>C
XM_017003282.1:c.1827+3250A>C	XP_016858771.1:n.1827+3250A>C
XM_024452672.1:c.1950+3250A>C	XP_024308440.1:n.1950+3250A>C
XM_024452676.1:c.1962+3250A>C	XP_024308444.1:n.1962+3250A>C
XM_024452678.1:c.1962+3250A>C	XP_024308446.1:n.1962+3250A>C
XM_024452679.1:c.1962+3250A>C	XP_024308447.1:n.1962+3250A>C
NM_001037131.3:c.1155+3250A>C MANE Select	NP_001032208.1:n.1155+3250A>C
NM_014914.5:c.1155+3250A>C	NP_055729.2:n.1155+3250A>C