Canonical Allele Identifier: CA357454935

Gene: SEPTIN11

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.77019224G>A , CM000666.2:g.77019224G>A	GRCh38
NC_000004.11:g.77940377G>A , CM000666.1:g.77940377G>A	GRCh37
NC_000004.10:g.78159401G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264893.11:c.747G>A MANE Select	ENSP00000264893.6:p.Met249Ile
ENST00000264893.10:c.747G>A	ENSP00000264893.6:p.Met249Ile
ENST00000502584.5:c.747G>A	ENSP00000426344.1:p.Met249Ile
ENST00000505788.5:c.747G>A	ENSP00000424925.1:p.Met249Ile
ENST00000506047.1:n.207G>A
ENST00000510515.5:c.777G>A	ENSP00000422896.1:p.Met259Ile
ENST00000510641.5:c.723G>A	ENSP00000420839.1:p.Met241Ile
ENST00000512575.5:n.96-9405G>A
NM_001306147.1:c.777G>A	NP_001293076.1:p.Met259Ile
NM_018243.2:c.747G>A	NP_060713.1:p.Met249Ile
NM_018243.3:c.747G>A	NP_060713.1:p.Met249Ile
XM_006714259.2:c.576G>A	XP_006714322.1:p.Met192Ile
XM_011532107.1:c.777G>A	XP_011530409.1:p.Met259Ile
XM_006714259.4:c.576G>A	XP_006714322.1:p.Met192Ile
XM_017008400.2:c.777G>A	XP_016863889.1:p.Met259Ile
XM_017008401.1:c.777G>A	XP_016863890.1:p.Met259Ile
XM_017008402.1:c.777G>A	XP_016863891.1:p.Met259Ile
XM_017008403.1:c.747G>A	XP_016863892.1:p.Met249Ile
XM_017008404.1:c.747G>A	XP_016863893.1:p.Met249Ile
XR_001741731.1:n.405+11949C>T
XR_001741732.1:n.405+11949C>T
XR_001741733.1:n.405+11949C>T
XR_938907.2:n.405+11949C>T
NM_001306147.2:c.777G>A	NP_001293076.1:p.Met259Ile
NM_018243.4:c.747G>A MANE Select	NP_060713.1:p.Met249Ile