Canonical Allele Identifier: CA385181719

Gene: ITGA7

Linked Data

• gnomAD v4: 12-55693260-A-C
• MyVariant Identifiers: chr12:g.56087044A>C (hg19) ; chr12:g.55693260A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693260A>C , CM000674.2:g.55693260A>C	GRCh38
NC_000012.11:g.56087044A>C , CM000674.1:g.56087044A>C	GRCh37
NC_000012.10:g.54373311A>C	NCBI36
NG_012343.1:g.24046T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2217T>G	ENSP00000452467.1:n.*2217T>G
ENST00000554327.6:c.1264T>G
ENST00000557058.2:n.2008T>G
ENST00000557257.2:c.2119T>G	ENSP00000450578.2:p.Trp707Gly
ENST00000557555.3:c.2605T>G	ENSP00000451039.3:p.Trp869Gly
ENST00000686981.1:c.*2304T>G	ENSP00000510795.1:n.*2304T>G
ENST00000687390.1:n.699T>G
ENST00000691052.1:c.*1077T>G	ENSP00000508886.1:n.*1077T>G
ENST00000691846.1:c.1406T>G
ENST00000691973.1:c.2605T>G	ENSP00000509141.1:p.Trp869Gly
ENST00000257879.11:c.2593T>G MANE Select	ENSP00000257879.7:p.Trp865Gly
ENST00000553804.6:c.2605T>G	ENSP00000452120.1:p.Trp869Gly
ENST00000257879.10:c.2593T>G	ENSP00000257879.6:p.Trp865Gly
ENST00000347027.10:c.2575T>G	ENSP00000343009.6:p.Trp859Gly
ENST00000452168.6:c.2314T>G	ENSP00000393844.2:p.Trp772Gly
ENST00000553804.5:c.2605T>G	ENSP00000452120.1:p.Trp869Gly
ENST00000554327.5:c.658T>G
ENST00000555728.5:c.2725T>G	ENSP00000452387.1:p.Trp909Gly
NM_001144996.1:c.2605T>G	NP_001138468.1:p.Trp869Gly
NM_001144997.1:c.2314T>G	NP_001138469.1:p.Trp772Gly
NM_002206.2:c.2593T>G	NP_002197.2:p.Trp865Gly
XM_005268839.1:c.2725T>G	XP_005268896.1:p.Trp909Gly
XM_005268840.1:c.2707T>G	XP_005268897.1:p.Trp903Gly
XM_005268841.1:c.2725T>G	XP_005268898.1:p.Trp909Gly
XM_005268842.1:c.2575T>G	XP_005268899.1:p.Trp859Gly
XM_005268844.1:c.2386T>G	XP_005268901.1:p.Trp796Gly
XM_005268845.1:c.2254T>G	XP_005268902.1:p.Trp752Gly
XM_005268846.1:c.2254T>G	XP_005268903.1:p.Trp752Gly
XM_005268847.1:c.2251T>G	XP_005268904.1:p.Trp751Gly
XM_005268848.1:c.2251T>G	XP_005268905.1:p.Trp751Gly
XM_005268849.1:c.2251T>G	XP_005268906.1:p.Trp751Gly
XM_005268850.1:c.2119T>G	XP_005268907.1:p.Trp707Gly
XM_011538286.1:c.2386T>G	XP_011536588.1:p.Trp796Gly
XM_005268839.2:c.2725T>G	XP_005268896.1:p.Trp909Gly
XM_005268840.2:c.2707T>G	XP_005268897.1:p.Trp903Gly
XM_005268841.2:c.2725T>G	XP_005268898.1:p.Trp909Gly
XM_005268842.2:c.2575T>G	XP_005268899.1:p.Trp859Gly
XM_017019265.1:c.2335T>G	XP_016874754.1:p.Trp779Gly
NM_001144996.2:c.2605T>G	NP_001138468.1:p.Trp869Gly
NM_001367993.1:c.2266T>G	NP_001354922.1:p.Trp756Gly
NM_001367994.1:c.1249T>G	NP_001354923.1:p.Trp417Gly
NM_001374465.1:c.2575T>G	NP_001361394.1:p.Trp859Gly
NM_002206.3:c.2593T>G MANE Select	NP_002197.2:p.Trp865Gly