Canonical Allele Identifier: CA385181746

Gene: ITGA7

Linked Data

• MyVariant Identifiers: chr12:g.56087055A>G (hg19) ; chr12:g.55693271A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693271A>G , CM000674.2:g.55693271A>G	GRCh38
NC_000012.11:g.56087055A>G , CM000674.1:g.56087055A>G	GRCh37
NC_000012.10:g.54373322A>G	NCBI36
NG_012343.1:g.24035T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2206T>C	ENSP00000452467.1:n.*2206T>C
ENST00000554327.6:c.1253T>C
ENST00000557058.2:n.1997T>C
ENST00000557257.2:c.2108T>C	ENSP00000450578.2:p.Leu703Pro
ENST00000557555.3:c.2594T>C	ENSP00000451039.3:p.Leu865Pro
ENST00000686981.1:c.*2293T>C	ENSP00000510795.1:n.*2293T>C
ENST00000687390.1:n.688T>C
ENST00000691052.1:c.*1066T>C	ENSP00000508886.1:n.*1066T>C
ENST00000691846.1:c.1395T>C
ENST00000691973.1:c.2594T>C	ENSP00000509141.1:p.Leu865Pro
ENST00000257879.11:c.2582T>C MANE Select	ENSP00000257879.7:p.Leu861Pro
ENST00000553804.6:c.2594T>C	ENSP00000452120.1:p.Leu865Pro
ENST00000257879.10:c.2582T>C	ENSP00000257879.6:p.Leu861Pro
ENST00000347027.10:c.2564T>C	ENSP00000343009.6:p.Leu855Pro
ENST00000452168.6:c.2303T>C	ENSP00000393844.2:p.Leu768Pro
ENST00000553804.5:c.2594T>C	ENSP00000452120.1:p.Leu865Pro
ENST00000554327.5:c.647T>C
ENST00000555728.5:c.2714T>C	ENSP00000452387.1:p.Leu905Pro
NM_001144996.1:c.2594T>C	NP_001138468.1:p.Leu865Pro
NM_001144997.1:c.2303T>C	NP_001138469.1:p.Leu768Pro
NM_002206.2:c.2582T>C	NP_002197.2:p.Leu861Pro
XM_005268839.1:c.2714T>C	XP_005268896.1:p.Leu905Pro
XM_005268840.1:c.2696T>C	XP_005268897.1:p.Leu899Pro
XM_005268841.1:c.2714T>C	XP_005268898.1:p.Leu905Pro
XM_005268842.1:c.2564T>C	XP_005268899.1:p.Leu855Pro
XM_005268844.1:c.2375T>C	XP_005268901.1:p.Leu792Pro
XM_005268845.1:c.2243T>C	XP_005268902.1:p.Leu748Pro
XM_005268846.1:c.2243T>C	XP_005268903.1:p.Leu748Pro
XM_005268847.1:c.2240T>C	XP_005268904.1:p.Leu747Pro
XM_005268848.1:c.2240T>C	XP_005268905.1:p.Leu747Pro
XM_005268849.1:c.2240T>C	XP_005268906.1:p.Leu747Pro
XM_005268850.1:c.2108T>C	XP_005268907.1:p.Leu703Pro
XM_011538286.1:c.2375T>C	XP_011536588.1:p.Leu792Pro
XM_005268839.2:c.2714T>C	XP_005268896.1:p.Leu905Pro
XM_005268840.2:c.2696T>C	XP_005268897.1:p.Leu899Pro
XM_005268841.2:c.2714T>C	XP_005268898.1:p.Leu905Pro
XM_005268842.2:c.2564T>C	XP_005268899.1:p.Leu855Pro
XM_017019265.1:c.2324T>C	XP_016874754.1:p.Leu775Pro
NM_001144996.2:c.2594T>C	NP_001138468.1:p.Leu865Pro
NM_001367993.1:c.2255T>C	NP_001354922.1:p.Leu752Pro
NM_001367994.1:c.1238T>C	NP_001354923.1:p.Leu413Pro
NM_001374465.1:c.2564T>C	NP_001361394.1:p.Leu855Pro
NM_002206.3:c.2582T>C MANE Select	NP_002197.2:p.Leu861Pro