Canonical Allele Identifier: CA385662899

Gene: SRGAP1

Linked Data

• gnomAD v4: 12-64016988-G-A
• MyVariant Identifiers: chr12:g.64410768G>A (hg19) ; chr12:g.64016988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64016988G>A , CM000674.2:g.64016988G>A	GRCh38
NC_000012.11:g.64410768G>A , CM000674.1:g.64410768G>A	GRCh37
NC_000012.10:g.62697035G>A	NCBI36
NG_051659.1:g.177236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631006.3:c.465G>A	ENSP00000485752.2:p.Met155Ile
ENST00000695902.1:c.*292G>A	ENSP00000512252.1:n.*292G>A
ENST00000355086.8:c.465G>A MANE Select	ENSP00000347198.3:p.Met155Ile
ENST00000355086.7:c.465G>A	ENSP00000347198.3:p.Met155Ile
ENST00000537556.1:n.479G>A
ENST00000543397.1:c.345G>A	ENSP00000437948.1:p.Met115Ile
ENST00000631006.2:c.345G>A	ENSP00000485752.1:p.Met115Ile
NM_020762.2:c.465G>A	NP_065813.1:p.Met155Ile
XM_005269042.2:c.465G>A	XP_005269099.1:p.Met155Ile
XM_011538580.1:c.345G>A	XP_011536882.1:p.Met115Ile
XM_011538581.1:c.345G>A	XP_011536883.1:p.Met115Ile
XM_011538582.1:c.42G>A	XP_011536884.1:p.Met14Ile
XM_011538583.1:c.465G>A	XP_011536885.1:p.Met155Ile
XR_945023.1:n.896+2705C>T
NM_001346201.1:c.465G>A	NP_001333130.1:p.Met155Ile
NM_020762.3:c.465G>A	NP_065813.1:p.Met155Ile
XM_011538580.2:c.345G>A	XP_011536882.1:p.Met115Ile
XM_011538581.2:c.345G>A	XP_011536883.1:p.Met115Ile
XM_024449096.1:c.465G>A	XP_024304864.1:p.Met155Ile
XM_024449097.1:c.465G>A	XP_024304865.1:p.Met155Ile
XR_945023.2:n.925+2705C>T
NM_020762.4:c.465G>A MANE Select	NP_065813.1:p.Met155Ile
NM_001346201.2:c.465G>A	NP_001333130.1:p.Met155Ile