Canonical Allele Identifier: CA385662856

Gene: SRGAP1

Linked Data

• dbSNP Id: rs781626187
• gnomAD v2: 12-64410750-A-T
• gnomAD v4: 12-64016970-A-T
• MyVariant Identifiers: chr12:g.64410750A>T (hg19) ; chr12:g.64016970A>T (hg38)

Genomic Alleles

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

Transcript Alleles

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