Canonical Allele Identifier: CA385181568

Gene: ITGA7

Linked Data

• MyVariant Identifiers: chr12:g.56086976C>A (hg19) ; chr12:g.55693192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693192C>A , CM000674.2:g.55693192C>A	GRCh38
NC_000012.11:g.56086976C>A , CM000674.1:g.56086976C>A	GRCh37
NC_000012.10:g.54373243C>A	NCBI36
NG_012343.1:g.24114G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2285G>T	ENSP00000452467.1:n.*2285G>T
ENST00000554327.6:c.1332G>T
ENST00000557058.2:n.2076G>T
ENST00000557257.2:c.2187G>T	ENSP00000450578.2:p.Gln729His
ENST00000557555.3:c.2673G>T	ENSP00000451039.3:p.Gln891His
ENST00000686981.1:c.*2372G>T	ENSP00000510795.1:n.*2372G>T
ENST00000687390.1:n.767G>T
ENST00000691052.1:c.*1145G>T	ENSP00000508886.1:n.*1145G>T
ENST00000691846.1:c.1474G>T
ENST00000691973.1:c.2652+21G>T	ENSP00000509141.1:n.2652+21G>T
ENST00000257879.11:c.2661G>T MANE Select	ENSP00000257879.7:p.Gln887His
ENST00000553804.6:c.2673G>T	ENSP00000452120.1:p.Gln891His
ENST00000257879.10:c.2661G>T	ENSP00000257879.6:p.Gln887His
ENST00000347027.10:c.2643G>T	ENSP00000343009.6:p.Gln881His
ENST00000452168.6:c.2382G>T	ENSP00000393844.2:p.Gln794His
ENST00000553804.5:c.2673G>T	ENSP00000452120.1:p.Gln891His
ENST00000554327.5:c.726G>T
ENST00000555728.5:c.2793G>T	ENSP00000452387.1:p.Gln931His
NM_001144996.1:c.2673G>T	NP_001138468.1:p.Gln891His
NM_001144997.1:c.2382G>T	NP_001138469.1:p.Gln794His
NM_002206.2:c.2661G>T	NP_002197.2:p.Gln887His
XM_005268839.1:c.2793G>T	XP_005268896.1:p.Gln931His
XM_005268840.1:c.2775G>T	XP_005268897.1:p.Gln925His
XM_005268841.1:c.2793G>T	XP_005268898.1:p.Gln931His
XM_005268842.1:c.2643G>T	XP_005268899.1:p.Gln881His
XM_005268844.1:c.2454G>T	XP_005268901.1:p.Gln818His
XM_005268845.1:c.2322G>T	XP_005268902.1:p.Gln774His
XM_005268846.1:c.2322G>T	XP_005268903.1:p.Gln774His
XM_005268847.1:c.2319G>T	XP_005268904.1:p.Gln773His
XM_005268848.1:c.2319G>T	XP_005268905.1:p.Gln773His
XM_005268849.1:c.2319G>T	XP_005268906.1:p.Gln773His
XM_005268850.1:c.2187G>T	XP_005268907.1:p.Gln729His
XM_011538286.1:c.2454G>T	XP_011536588.1:p.Gln818His
XM_005268839.2:c.2793G>T	XP_005268896.1:p.Gln931His
XM_005268840.2:c.2775G>T	XP_005268897.1:p.Gln925His
XM_005268841.2:c.2793G>T	XP_005268898.1:p.Gln931His
XM_005268842.2:c.2643G>T	XP_005268899.1:p.Gln881His
XM_017019265.1:c.2403G>T	XP_016874754.1:p.Gln801His
NM_001144996.2:c.2673G>T	NP_001138468.1:p.Gln891His
NM_001367993.1:c.2334G>T	NP_001354922.1:p.Gln778His
NM_001367994.1:c.1317G>T	NP_001354923.1:p.Gln439His
NM_001374465.1:c.2643G>T	NP_001361394.1:p.Gln881His
NM_002206.3:c.2661G>T MANE Select	NP_002197.2:p.Gln887His