Canonical Allele Identifier: CA204459

Gene: SRGAP1

Linked Data

• ClinVar Variation Id: 208456
• ClinVar RCV Id: RCV000190471
• dbSNP Id: rs781626187
• ExAC: 12:64410750 A / C
• gnomAD v2: 12-64410750-A-C
• gnomAD v3: 12-64016970-A-C
• gnomAD v4: 12-64016970-A-C
• MyVariant Identifiers: chr12:g.64410750A>C (hg19) ; chr12:g.64016970A>C (hg38)
• PubMed: PMID:23539728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64016970A>C , CM000674.2:g.64016970A>C	GRCh38
NC_000012.11:g.64410750A>C , CM000674.1:g.64410750A>C	GRCh37
NC_000012.10:g.62697017A>C	NCBI36
NG_051659.1:g.177218A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000631006.3:c.447A>C	ENSP00000485752.2:p.Gln149His
ENST00000695902.1:c.*274A>C	ENSP00000512252.1:n.*274A>C
ENST00000355086.8:c.447A>C MANE Select	ENSP00000347198.3:p.Gln149His
ENST00000355086.7:c.447A>C	ENSP00000347198.3:p.Gln149His
ENST00000537556.1:n.461A>C
ENST00000543397.1:c.327A>C	ENSP00000437948.1:p.Gln109His
ENST00000631006.2:c.327A>C	ENSP00000485752.1:p.Gln109His
NM_020762.2:c.447A>C	NP_065813.1:p.Gln149His
XM_005269042.2:c.447A>C	XP_005269099.1:p.Gln149His
XM_011538580.1:c.327A>C	XP_011536882.1:p.Gln109His
XM_011538581.1:c.327A>C	XP_011536883.1:p.Gln109His
XM_011538582.1:c.24A>C	XP_011536884.1:p.Gln8His
XM_011538583.1:c.447A>C	XP_011536885.1:p.Gln149His
XR_945023.1:n.896+2723T>G
NM_001346201.1:c.447A>C	NP_001333130.1:p.Gln149His
NM_020762.3:c.447A>C	NP_065813.1:p.Gln149His
XM_011538580.2:c.327A>C	XP_011536882.1:p.Gln109His
XM_011538581.2:c.327A>C	XP_011536883.1:p.Gln109His
XM_024449096.1:c.447A>C	XP_024304864.1:p.Gln149His
XM_024449097.1:c.447A>C	XP_024304865.1:p.Gln149His
XR_945023.2:n.925+2723T>G
NM_020762.4:c.447A>C MANE Select	NP_065813.1:p.Gln149His
NM_001346201.2:c.447A>C	NP_001333130.1:p.Gln149His