Canonical Allele Identifier: CA385181714

Gene: ITGA7

Linked Data

• COSMIC: COSM5671603 ; COSM5671604 ; COSM5671605 ; COSM5671606
• MyVariant Identifiers: chr12:g.56087042C>A (hg19) ; chr12:g.55693258C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693258C>A , CM000674.2:g.55693258C>A	GRCh38
NC_000012.11:g.56087042C>A , CM000674.1:g.56087042C>A	GRCh37
NC_000012.10:g.54373309C>A	NCBI36
NG_012343.1:g.24048G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2219G>T	ENSP00000452467.1:n.*2219G>T
ENST00000554327.6:c.1266G>T
ENST00000557058.2:n.2010G>T
ENST00000557257.2:c.2121G>T	ENSP00000450578.2:p.Trp707Cys
ENST00000557555.3:c.2607G>T	ENSP00000451039.3:p.Trp869Cys
ENST00000686981.1:c.*2306G>T	ENSP00000510795.1:n.*2306G>T
ENST00000687390.1:n.701G>T
ENST00000691052.1:c.*1079G>T	ENSP00000508886.1:n.*1079G>T
ENST00000691846.1:c.1408G>T
ENST00000691973.1:c.2607G>T	ENSP00000509141.1:p.Trp869Cys
ENST00000257879.11:c.2595G>T MANE Select	ENSP00000257879.7:p.Trp865Cys
ENST00000553804.6:c.2607G>T	ENSP00000452120.1:p.Trp869Cys
ENST00000257879.10:c.2595G>T	ENSP00000257879.6:p.Trp865Cys
ENST00000347027.10:c.2577G>T	ENSP00000343009.6:p.Trp859Cys
ENST00000452168.6:c.2316G>T	ENSP00000393844.2:p.Trp772Cys
ENST00000553804.5:c.2607G>T	ENSP00000452120.1:p.Trp869Cys
ENST00000554327.5:c.660G>T
ENST00000555728.5:c.2727G>T	ENSP00000452387.1:p.Trp909Cys
NM_001144996.1:c.2607G>T	NP_001138468.1:p.Trp869Cys
NM_001144997.1:c.2316G>T	NP_001138469.1:p.Trp772Cys
NM_002206.2:c.2595G>T	NP_002197.2:p.Trp865Cys
XM_005268839.1:c.2727G>T	XP_005268896.1:p.Trp909Cys
XM_005268840.1:c.2709G>T	XP_005268897.1:p.Trp903Cys
XM_005268841.1:c.2727G>T	XP_005268898.1:p.Trp909Cys
XM_005268842.1:c.2577G>T	XP_005268899.1:p.Trp859Cys
XM_005268844.1:c.2388G>T	XP_005268901.1:p.Trp796Cys
XM_005268845.1:c.2256G>T	XP_005268902.1:p.Trp752Cys
XM_005268846.1:c.2256G>T	XP_005268903.1:p.Trp752Cys
XM_005268847.1:c.2253G>T	XP_005268904.1:p.Trp751Cys
XM_005268848.1:c.2253G>T	XP_005268905.1:p.Trp751Cys
XM_005268849.1:c.2253G>T	XP_005268906.1:p.Trp751Cys
XM_005268850.1:c.2121G>T	XP_005268907.1:p.Trp707Cys
XM_011538286.1:c.2388G>T	XP_011536588.1:p.Trp796Cys
XM_005268839.2:c.2727G>T	XP_005268896.1:p.Trp909Cys
XM_005268840.2:c.2709G>T	XP_005268897.1:p.Trp903Cys
XM_005268841.2:c.2727G>T	XP_005268898.1:p.Trp909Cys
XM_005268842.2:c.2577G>T	XP_005268899.1:p.Trp859Cys
XM_017019265.1:c.2337G>T	XP_016874754.1:p.Trp779Cys
NM_001144996.2:c.2607G>T	NP_001138468.1:p.Trp869Cys
NM_001367993.1:c.2268G>T	NP_001354922.1:p.Trp756Cys
NM_001367994.1:c.1251G>T	NP_001354923.1:p.Trp417Cys
NM_001374465.1:c.2577G>T	NP_001361394.1:p.Trp859Cys
NM_002206.3:c.2595G>T MANE Select	NP_002197.2:p.Trp865Cys