Canonical Allele Identifier: CA385662843

Gene: SRGAP1

Linked Data

• gnomAD v4: 12-64016965-T-C
• MyVariant Identifiers: chr12:g.64410745T>C (hg19) ; chr12:g.64016965T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64016965T>C , CM000674.2:g.64016965T>C	GRCh38
NC_000012.11:g.64410745T>C , CM000674.1:g.64410745T>C	GRCh37
NC_000012.10:g.62697012T>C	NCBI36
NG_051659.1:g.177213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631006.3:c.442T>C	ENSP00000485752.2:p.Phe148Leu
ENST00000695902.1:c.*269T>C	ENSP00000512252.1:n.*269T>C
ENST00000355086.8:c.442T>C MANE Select	ENSP00000347198.3:p.Phe148Leu
ENST00000355086.7:c.442T>C	ENSP00000347198.3:p.Phe148Leu
ENST00000537556.1:n.456T>C
ENST00000543397.1:c.322T>C	ENSP00000437948.1:p.Phe108Leu
ENST00000631006.2:c.322T>C	ENSP00000485752.1:p.Phe108Leu
NM_020762.2:c.442T>C	NP_065813.1:p.Phe148Leu
XM_005269042.2:c.442T>C	XP_005269099.1:p.Phe148Leu
XM_011538580.1:c.322T>C	XP_011536882.1:p.Phe108Leu
XM_011538581.1:c.322T>C	XP_011536883.1:p.Phe108Leu
XM_011538582.1:c.19T>C	XP_011536884.1:p.Phe7Leu
XM_011538583.1:c.442T>C	XP_011536885.1:p.Phe148Leu
XR_945023.1:n.896+2728A>G
NM_001346201.1:c.442T>C	NP_001333130.1:p.Phe148Leu
NM_020762.3:c.442T>C	NP_065813.1:p.Phe148Leu
XM_011538580.2:c.322T>C	XP_011536882.1:p.Phe108Leu
XM_011538581.2:c.322T>C	XP_011536883.1:p.Phe108Leu
XM_024449096.1:c.442T>C	XP_024304864.1:p.Phe148Leu
XM_024449097.1:c.442T>C	XP_024304865.1:p.Phe148Leu
XR_945023.2:n.925+2728A>G
NM_020762.4:c.442T>C MANE Select	NP_065813.1:p.Phe148Leu
NM_001346201.2:c.442T>C	NP_001333130.1:p.Phe148Leu