Canonical Allele Identifier: CA385662909

Gene: SRGAP1

Linked Data

• dbSNP Id: rs1203803009
• gnomAD v4: 12-64016991-G-T
• MyVariant Identifiers: chr12:g.64410771G>T (hg19) ; chr12:g.64016991G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64016991G>T , CM000674.2:g.64016991G>T	GRCh38
NC_000012.11:g.64410771G>T , CM000674.1:g.64410771G>T	GRCh37
NC_000012.10:g.62697038G>T	NCBI36
NG_051659.1:g.177239G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631006.3:c.468G>T	ENSP00000485752.2:p.Lys156Asn
ENST00000695902.1:c.*295G>T	ENSP00000512252.1:n.*295G>T
ENST00000355086.8:c.468G>T MANE Select	ENSP00000347198.3:p.Lys156Asn
ENST00000355086.7:c.468G>T	ENSP00000347198.3:p.Lys156Asn
ENST00000537556.1:n.482G>T
ENST00000543397.1:c.348G>T	ENSP00000437948.1:p.Lys116Asn
ENST00000631006.2:c.348G>T	ENSP00000485752.1:p.Lys116Asn
NM_020762.2:c.468G>T	NP_065813.1:p.Lys156Asn
XM_005269042.2:c.468G>T	XP_005269099.1:p.Lys156Asn
XM_011538580.1:c.348G>T	XP_011536882.1:p.Lys116Asn
XM_011538581.1:c.348G>T	XP_011536883.1:p.Lys116Asn
XM_011538582.1:c.45G>T	XP_011536884.1:p.Lys15Asn
XM_011538583.1:c.468G>T	XP_011536885.1:p.Lys156Asn
XR_945023.1:n.896+2702C>A
NM_001346201.1:c.468G>T	NP_001333130.1:p.Lys156Asn
NM_020762.3:c.468G>T	NP_065813.1:p.Lys156Asn
XM_011538580.2:c.348G>T	XP_011536882.1:p.Lys116Asn
XM_011538581.2:c.348G>T	XP_011536883.1:p.Lys116Asn
XM_024449096.1:c.468G>T	XP_024304864.1:p.Lys156Asn
XM_024449097.1:c.468G>T	XP_024304865.1:p.Lys156Asn
XR_945023.2:n.925+2702C>A
NM_020762.4:c.468G>T MANE Select	NP_065813.1:p.Lys156Asn
NM_001346201.2:c.468G>T	NP_001333130.1:p.Lys156Asn