Canonical Allele Identifier: CA385181775

Gene: ITGA7

Linked Data

• MyVariant Identifiers: chr12:g.56087070A>C (hg19) ; chr12:g.55693286A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693286A>C , CM000674.2:g.55693286A>C	GRCh38
NC_000012.11:g.56087070A>C , CM000674.1:g.56087070A>C	GRCh37
NC_000012.10:g.54373337A>C	NCBI36
NG_012343.1:g.24020T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2191T>G	ENSP00000452467.1:n.*2191T>G
ENST00000554327.6:c.1238T>G
ENST00000557058.2:n.1982T>G
ENST00000557257.2:c.2093T>G	ENSP00000450578.2:p.Leu698Arg
ENST00000557555.3:c.2579T>G	ENSP00000451039.3:p.Leu860Arg
ENST00000686981.1:c.*2278T>G	ENSP00000510795.1:n.*2278T>G
ENST00000687390.1:n.673T>G
ENST00000691052.1:c.*1051T>G	ENSP00000508886.1:n.*1051T>G
ENST00000691846.1:c.1380T>G
ENST00000691973.1:c.2579T>G	ENSP00000509141.1:p.Leu860Arg
ENST00000257879.11:c.2567T>G MANE Select	ENSP00000257879.7:p.Leu856Arg
ENST00000553804.6:c.2579T>G	ENSP00000452120.1:p.Leu860Arg
ENST00000257879.10:c.2567T>G	ENSP00000257879.6:p.Leu856Arg
ENST00000347027.10:c.2549T>G	ENSP00000343009.6:p.Leu850Arg
ENST00000452168.6:c.2288T>G	ENSP00000393844.2:p.Leu763Arg
ENST00000553804.5:c.2579T>G	ENSP00000452120.1:p.Leu860Arg
ENST00000554327.5:c.632T>G
ENST00000555728.5:c.2699T>G	ENSP00000452387.1:p.Leu900Arg
NM_001144996.1:c.2579T>G	NP_001138468.1:p.Leu860Arg
NM_001144997.1:c.2288T>G	NP_001138469.1:p.Leu763Arg
NM_002206.2:c.2567T>G	NP_002197.2:p.Leu856Arg
XM_005268839.1:c.2699T>G	XP_005268896.1:p.Leu900Arg
XM_005268840.1:c.2681T>G	XP_005268897.1:p.Leu894Arg
XM_005268841.1:c.2699T>G	XP_005268898.1:p.Leu900Arg
XM_005268842.1:c.2549T>G	XP_005268899.1:p.Leu850Arg
XM_005268844.1:c.2360T>G	XP_005268901.1:p.Leu787Arg
XM_005268845.1:c.2228T>G	XP_005268902.1:p.Leu743Arg
XM_005268846.1:c.2228T>G	XP_005268903.1:p.Leu743Arg
XM_005268847.1:c.2225T>G	XP_005268904.1:p.Leu742Arg
XM_005268848.1:c.2225T>G	XP_005268905.1:p.Leu742Arg
XM_005268849.1:c.2225T>G	XP_005268906.1:p.Leu742Arg
XM_005268850.1:c.2093T>G	XP_005268907.1:p.Leu698Arg
XM_011538286.1:c.2360T>G	XP_011536588.1:p.Leu787Arg
XM_005268839.2:c.2699T>G	XP_005268896.1:p.Leu900Arg
XM_005268840.2:c.2681T>G	XP_005268897.1:p.Leu894Arg
XM_005268841.2:c.2699T>G	XP_005268898.1:p.Leu900Arg
XM_005268842.2:c.2549T>G	XP_005268899.1:p.Leu850Arg
XM_017019265.1:c.2309T>G	XP_016874754.1:p.Leu770Arg
NM_001144996.2:c.2579T>G	NP_001138468.1:p.Leu860Arg
NM_001367993.1:c.2240T>G	NP_001354922.1:p.Leu747Arg
NM_001367994.1:c.1223T>G	NP_001354923.1:p.Leu408Arg
NM_001374465.1:c.2549T>G	NP_001361394.1:p.Leu850Arg
NM_002206.3:c.2567T>G MANE Select	NP_002197.2:p.Leu856Arg