Canonical Allele Identifier: CA385662807

Gene: SRGAP1

Linked Data

• gnomAD v4: 12-64016950-A-G
• MyVariant Identifiers: chr12:g.64410730A>G (hg19) ; chr12:g.64016950A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64016950A>G , CM000674.2:g.64016950A>G	GRCh38
NC_000012.11:g.64410730A>G , CM000674.1:g.64410730A>G	GRCh37
NC_000012.10:g.62696997A>G	NCBI36
NG_051659.1:g.177198A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631006.3:c.427A>G	ENSP00000485752.2:p.Ser143Gly
ENST00000695902.1:c.*254A>G	ENSP00000512252.1:n.*254A>G
ENST00000355086.8:c.427A>G MANE Select	ENSP00000347198.3:p.Ser143Gly
ENST00000355086.7:c.427A>G	ENSP00000347198.3:p.Ser143Gly
ENST00000537556.1:n.441A>G
ENST00000543397.1:c.307A>G	ENSP00000437948.1:p.Ser103Gly
ENST00000631006.2:c.307A>G	ENSP00000485752.1:p.Ser103Gly
NM_020762.2:c.427A>G	NP_065813.1:p.Ser143Gly
XM_005269042.2:c.427A>G	XP_005269099.1:p.Ser143Gly
XM_011538580.1:c.307A>G	XP_011536882.1:p.Ser103Gly
XM_011538581.1:c.307A>G	XP_011536883.1:p.Ser103Gly
XM_011538582.1:c.4A>G	XP_011536884.1:p.Ser2Gly
XM_011538583.1:c.427A>G	XP_011536885.1:p.Ser143Gly
XR_945023.1:n.896+2743T>C
NM_001346201.1:c.427A>G	NP_001333130.1:p.Ser143Gly
NM_020762.3:c.427A>G	NP_065813.1:p.Ser143Gly
XM_011538580.2:c.307A>G	XP_011536882.1:p.Ser103Gly
XM_011538581.2:c.307A>G	XP_011536883.1:p.Ser103Gly
XM_024449096.1:c.427A>G	XP_024304864.1:p.Ser143Gly
XM_024449097.1:c.427A>G	XP_024304865.1:p.Ser143Gly
XR_945023.2:n.925+2743T>C
NM_020762.4:c.427A>G MANE Select	NP_065813.1:p.Ser143Gly
NM_001346201.2:c.427A>G	NP_001333130.1:p.Ser143Gly