Canonical Allele Identifier: CA385181651

Gene: ITGA7

Linked Data

• MyVariant Identifiers: chr12:g.56087015C>G (hg19) ; chr12:g.55693231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693231C>G , CM000674.2:g.55693231C>G	GRCh38
NC_000012.11:g.56087015C>G , CM000674.1:g.56087015C>G	GRCh37
NC_000012.10:g.54373282C>G	NCBI36
NG_012343.1:g.24075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2246G>C	ENSP00000452467.1:n.*2246G>C
ENST00000554327.6:c.1293G>C
ENST00000557058.2:n.2037G>C
ENST00000557257.2:c.2148G>C	ENSP00000450578.2:p.Trp716Cys
ENST00000557555.3:c.2634G>C	ENSP00000451039.3:p.Trp878Cys
ENST00000686981.1:c.*2333G>C	ENSP00000510795.1:n.*2333G>C
ENST00000687390.1:n.728G>C
ENST00000691052.1:c.*1106G>C	ENSP00000508886.1:n.*1106G>C
ENST00000691846.1:c.1435G>C
ENST00000691973.1:c.2634G>C	ENSP00000509141.1:p.Trp878Cys
ENST00000257879.11:c.2622G>C MANE Select	ENSP00000257879.7:p.Trp874Cys
ENST00000553804.6:c.2634G>C	ENSP00000452120.1:p.Trp878Cys
ENST00000257879.10:c.2622G>C	ENSP00000257879.6:p.Trp874Cys
ENST00000347027.10:c.2604G>C	ENSP00000343009.6:p.Trp868Cys
ENST00000452168.6:c.2343G>C	ENSP00000393844.2:p.Trp781Cys
ENST00000553804.5:c.2634G>C	ENSP00000452120.1:p.Trp878Cys
ENST00000554327.5:c.687G>C
ENST00000555728.5:c.2754G>C	ENSP00000452387.1:p.Trp918Cys
NM_001144996.1:c.2634G>C	NP_001138468.1:p.Trp878Cys
NM_001144997.1:c.2343G>C	NP_001138469.1:p.Trp781Cys
NM_002206.2:c.2622G>C	NP_002197.2:p.Trp874Cys
XM_005268839.1:c.2754G>C	XP_005268896.1:p.Trp918Cys
XM_005268840.1:c.2736G>C	XP_005268897.1:p.Trp912Cys
XM_005268841.1:c.2754G>C	XP_005268898.1:p.Trp918Cys
XM_005268842.1:c.2604G>C	XP_005268899.1:p.Trp868Cys
XM_005268844.1:c.2415G>C	XP_005268901.1:p.Trp805Cys
XM_005268845.1:c.2283G>C	XP_005268902.1:p.Trp761Cys
XM_005268846.1:c.2283G>C	XP_005268903.1:p.Trp761Cys
XM_005268847.1:c.2280G>C	XP_005268904.1:p.Trp760Cys
XM_005268848.1:c.2280G>C	XP_005268905.1:p.Trp760Cys
XM_005268849.1:c.2280G>C	XP_005268906.1:p.Trp760Cys
XM_005268850.1:c.2148G>C	XP_005268907.1:p.Trp716Cys
XM_011538286.1:c.2415G>C	XP_011536588.1:p.Trp805Cys
XM_005268839.2:c.2754G>C	XP_005268896.1:p.Trp918Cys
XM_005268840.2:c.2736G>C	XP_005268897.1:p.Trp912Cys
XM_005268841.2:c.2754G>C	XP_005268898.1:p.Trp918Cys
XM_005268842.2:c.2604G>C	XP_005268899.1:p.Trp868Cys
XM_017019265.1:c.2364G>C	XP_016874754.1:p.Trp788Cys
NM_001144996.2:c.2634G>C	NP_001138468.1:p.Trp878Cys
NM_001367993.1:c.2295G>C	NP_001354922.1:p.Trp765Cys
NM_001367994.1:c.1278G>C	NP_001354923.1:p.Trp426Cys
NM_001374465.1:c.2604G>C	NP_001361394.1:p.Trp868Cys
NM_002206.3:c.2622G>C MANE Select	NP_002197.2:p.Trp874Cys