Canonical Allele Identifier: CA385181549

Gene: ITGA7

Linked Data

• gnomAD v4: 12-55693181-T-C
• MyVariant Identifiers: chr12:g.56086965T>C (hg19) ; chr12:g.55693181T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693181T>C , CM000674.2:g.55693181T>C	GRCh38
NC_000012.11:g.56086965T>C , CM000674.1:g.56086965T>C	GRCh37
NC_000012.10:g.54373232T>C	NCBI36
NG_012343.1:g.24125A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2296A>G	ENSP00000452467.1:n.*2296A>G
ENST00000554327.6:c.1343A>G
ENST00000557058.2:n.2087A>G
ENST00000557257.2:c.2198A>G	ENSP00000450578.2:p.Gln733Arg
ENST00000557555.3:c.2684A>G	ENSP00000451039.3:p.Gln895Arg
ENST00000686981.1:c.*2383A>G	ENSP00000510795.1:n.*2383A>G
ENST00000687390.1:n.778A>G
ENST00000691052.1:c.*1156A>G	ENSP00000508886.1:n.*1156A>G
ENST00000691846.1:c.1485A>G
ENST00000691973.1:c.2652+32A>G	ENSP00000509141.1:n.2652+32A>G
ENST00000257879.11:c.2672A>G MANE Select	ENSP00000257879.7:p.Gln891Arg
ENST00000553804.6:c.2684A>G	ENSP00000452120.1:p.Gln895Arg
ENST00000257879.10:c.2672A>G	ENSP00000257879.6:p.Gln891Arg
ENST00000347027.10:c.2654A>G	ENSP00000343009.6:p.Gln885Arg
ENST00000452168.6:c.2393A>G	ENSP00000393844.2:p.Gln798Arg
ENST00000553804.5:c.2684A>G	ENSP00000452120.1:p.Gln895Arg
ENST00000554327.5:c.737A>G
ENST00000555728.5:c.2804A>G	ENSP00000452387.1:p.Gln935Arg
NM_001144996.1:c.2684A>G	NP_001138468.1:p.Gln895Arg
NM_001144997.1:c.2393A>G	NP_001138469.1:p.Gln798Arg
NM_002206.2:c.2672A>G	NP_002197.2:p.Gln891Arg
XM_005268839.1:c.2804A>G	XP_005268896.1:p.Gln935Arg
XM_005268840.1:c.2786A>G	XP_005268897.1:p.Gln929Arg
XM_005268841.1:c.2804A>G	XP_005268898.1:p.Gln935Arg
XM_005268842.1:c.2654A>G	XP_005268899.1:p.Gln885Arg
XM_005268844.1:c.2465A>G	XP_005268901.1:p.Gln822Arg
XM_005268845.1:c.2333A>G	XP_005268902.1:p.Gln778Arg
XM_005268846.1:c.2333A>G	XP_005268903.1:p.Gln778Arg
XM_005268847.1:c.2330A>G	XP_005268904.1:p.Gln777Arg
XM_005268848.1:c.2330A>G	XP_005268905.1:p.Gln777Arg
XM_005268849.1:c.2330A>G	XP_005268906.1:p.Gln777Arg
XM_005268850.1:c.2198A>G	XP_005268907.1:p.Gln733Arg
XM_011538286.1:c.2465A>G	XP_011536588.1:p.Gln822Arg
XM_005268839.2:c.2804A>G	XP_005268896.1:p.Gln935Arg
XM_005268840.2:c.2786A>G	XP_005268897.1:p.Gln929Arg
XM_005268841.2:c.2804A>G	XP_005268898.1:p.Gln935Arg
XM_005268842.2:c.2654A>G	XP_005268899.1:p.Gln885Arg
XM_017019265.1:c.2414A>G	XP_016874754.1:p.Gln805Arg
NM_001144996.2:c.2684A>G	NP_001138468.1:p.Gln895Arg
NM_001367993.1:c.2345A>G	NP_001354922.1:p.Gln782Arg
NM_001367994.1:c.1328A>G	NP_001354923.1:p.Gln443Arg
NM_001374465.1:c.2654A>G	NP_001361394.1:p.Gln885Arg
NM_002206.3:c.2672A>G MANE Select	NP_002197.2:p.Gln891Arg