Canonical Allele Identifier: CA2619613344
Gene: SRGAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64017036T>C , CM000674.2:g.64017036T>C GRCh38
NC_000012.11:g.64410816T>C , CM000674.1:g.64410816T>C GRCh37
NC_000012.10:g.62697083T>C NCBI36
NG_051659.1:g.177284T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000631006.3:c.489+24T>C ENSP00000485752.2:n.489+24T>C
ENST00000695902.1:c.*316+24T>C ENSP00000512252.1:n.*316+24T>C
ENST00000355086.8:c.489+24T>C MANE Select ENSP00000347198.3:n.489+24T>C
ENST00000355086.7:c.489+24T>C ENSP00000347198.3:n.489+24T>C
ENST00000537556.1:n.503+24T>C
ENST00000543397.1:c.369+24T>C ENSP00000437948.1:n.369+24T>C
ENST00000631006.2:c.369+24T>C ENSP00000485752.1:n.369+24T>C
NM_020762.2:c.489+24T>C NP_065813.1:n.489+24T>C
XM_005269042.2:c.489+24T>C XP_005269099.1:n.489+24T>C
XM_011538580.1:c.369+24T>C XP_011536882.1:n.369+24T>C
XM_011538581.1:c.369+24T>C XP_011536883.1:n.369+24T>C
XM_011538582.1:c.66+24T>C XP_011536884.1:n.66+24T>C
XM_011538583.1:c.489+24T>C XP_011536885.1:n.489+24T>C
XR_945023.1:n.896+2657A>G
NM_001346201.1:c.489+24T>C NP_001333130.1:n.489+24T>C
NM_020762.3:c.489+24T>C NP_065813.1:n.489+24T>C
XM_011538580.2:c.369+24T>C XP_011536882.1:n.369+24T>C
XM_011538581.2:c.369+24T>C XP_011536883.1:n.369+24T>C
XM_024449096.1:c.489+24T>C XP_024304864.1:n.489+24T>C
XM_024449097.1:c.489+24T>C XP_024304865.1:n.489+24T>C
XR_945023.2:n.925+2657A>G
NM_020762.4:c.489+24T>C MANE Select NP_065813.1:n.489+24T>C
NM_001346201.2:c.489+24T>C NP_001333130.1:n.489+24T>C