Canonical Allele Identifier: CA690897612

Gene: SRGAP1

Linked Data

• dbSNP Id: rs1362903622
• gnomAD v3: 12-64017051-G-A
• gnomAD v4: 12-64017051-G-A
• MyVariant Identifiers: chr12:g.64410831G>A (hg19) ; chr12:g.64017051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64017051G>A , CM000674.2:g.64017051G>A	GRCh38
NC_000012.11:g.64410831G>A , CM000674.1:g.64410831G>A	GRCh37
NC_000012.10:g.62697098G>A	NCBI36
NG_051659.1:g.177299G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631006.3:c.489+39G>A	ENSP00000485752.2:n.489+39G>A
ENST00000695902.1:c.*316+39G>A	ENSP00000512252.1:n.*316+39G>A
ENST00000355086.8:c.489+39G>A MANE Select	ENSP00000347198.3:n.489+39G>A
ENST00000355086.7:c.489+39G>A	ENSP00000347198.3:n.489+39G>A
ENST00000537556.1:n.503+39G>A
ENST00000543397.1:c.369+39G>A	ENSP00000437948.1:n.369+39G>A
ENST00000631006.2:c.369+39G>A	ENSP00000485752.1:n.369+39G>A
NM_020762.2:c.489+39G>A	NP_065813.1:n.489+39G>A
XM_005269042.2:c.489+39G>A	XP_005269099.1:n.489+39G>A
XM_011538580.1:c.369+39G>A	XP_011536882.1:n.369+39G>A
XM_011538581.1:c.369+39G>A	XP_011536883.1:n.369+39G>A
XM_011538582.1:c.66+39G>A	XP_011536884.1:n.66+39G>A
XM_011538583.1:c.489+39G>A	XP_011536885.1:n.489+39G>A
XR_945023.1:n.896+2642C>T
NM_001346201.1:c.489+39G>A	NP_001333130.1:n.489+39G>A
NM_020762.3:c.489+39G>A	NP_065813.1:n.489+39G>A
XM_011538580.2:c.369+39G>A	XP_011536882.1:n.369+39G>A
XM_011538581.2:c.369+39G>A	XP_011536883.1:n.369+39G>A
XM_024449096.1:c.489+39G>A	XP_024304864.1:n.489+39G>A
XM_024449097.1:c.489+39G>A	XP_024304865.1:n.489+39G>A
XR_945023.2:n.925+2642C>T
NM_020762.4:c.489+39G>A MANE Select	NP_065813.1:n.489+39G>A
NM_001346201.2:c.489+39G>A	NP_001333130.1:n.489+39G>A