Canonical Allele Identifier: CA385181790

Gene: ITGA7

Linked Data

• gnomAD v4: 12-55693292-C-T
• MyVariant Identifiers: chr12:g.56087076C>T (hg19) ; chr12:g.55693292C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693292C>T , CM000674.2:g.55693292C>T	GRCh38
NC_000012.11:g.56087076C>T , CM000674.1:g.56087076C>T	GRCh37
NC_000012.10:g.54373343C>T	NCBI36
NG_012343.1:g.24014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2185G>A	ENSP00000452467.1:n.*2185G>A
ENST00000554327.6:c.1232G>A
ENST00000557058.2:n.1976G>A
ENST00000557257.2:c.2087G>A	ENSP00000450578.2:p.Arg696Lys
ENST00000557555.3:c.2573G>A	ENSP00000451039.3:p.Arg858Lys
ENST00000686981.1:c.*2272G>A	ENSP00000510795.1:n.*2272G>A
ENST00000687390.1:n.667G>A
ENST00000691052.1:c.*1045G>A	ENSP00000508886.1:n.*1045G>A
ENST00000691846.1:c.1374G>A
ENST00000691973.1:c.2573G>A	ENSP00000509141.1:p.Arg858Lys
ENST00000257879.11:c.2561G>A MANE Select	ENSP00000257879.7:p.Arg854Lys
ENST00000553804.6:c.2573G>A	ENSP00000452120.1:p.Arg858Lys
ENST00000257879.10:c.2561G>A	ENSP00000257879.6:p.Arg854Lys
ENST00000347027.10:c.2543G>A	ENSP00000343009.6:p.Arg848Lys
ENST00000452168.6:c.2282G>A	ENSP00000393844.2:p.Arg761Lys
ENST00000553804.5:c.2573G>A	ENSP00000452120.1:p.Arg858Lys
ENST00000554327.5:c.626G>A
ENST00000555728.5:c.2693G>A	ENSP00000452387.1:p.Arg898Lys
NM_001144996.1:c.2573G>A	NP_001138468.1:p.Arg858Lys
NM_001144997.1:c.2282G>A	NP_001138469.1:p.Arg761Lys
NM_002206.2:c.2561G>A	NP_002197.2:p.Arg854Lys
XM_005268839.1:c.2693G>A	XP_005268896.1:p.Arg898Lys
XM_005268840.1:c.2675G>A	XP_005268897.1:p.Arg892Lys
XM_005268841.1:c.2693G>A	XP_005268898.1:p.Arg898Lys
XM_005268842.1:c.2543G>A	XP_005268899.1:p.Arg848Lys
XM_005268844.1:c.2354G>A	XP_005268901.1:p.Arg785Lys
XM_005268845.1:c.2222G>A	XP_005268902.1:p.Arg741Lys
XM_005268846.1:c.2222G>A	XP_005268903.1:p.Arg741Lys
XM_005268847.1:c.2219G>A	XP_005268904.1:p.Arg740Lys
XM_005268848.1:c.2219G>A	XP_005268905.1:p.Arg740Lys
XM_005268849.1:c.2219G>A	XP_005268906.1:p.Arg740Lys
XM_005268850.1:c.2087G>A	XP_005268907.1:p.Arg696Lys
XM_011538286.1:c.2354G>A	XP_011536588.1:p.Arg785Lys
XM_005268839.2:c.2693G>A	XP_005268896.1:p.Arg898Lys
XM_005268840.2:c.2675G>A	XP_005268897.1:p.Arg892Lys
XM_005268841.2:c.2693G>A	XP_005268898.1:p.Arg898Lys
XM_005268842.2:c.2543G>A	XP_005268899.1:p.Arg848Lys
XM_017019265.1:c.2303G>A	XP_016874754.1:p.Arg768Lys
NM_001144996.2:c.2573G>A	NP_001138468.1:p.Arg858Lys
NM_001367993.1:c.2234G>A	NP_001354922.1:p.Arg745Lys
NM_001367994.1:c.1217G>A	NP_001354923.1:p.Arg406Lys
NM_001374465.1:c.2543G>A	NP_001361394.1:p.Arg848Lys
NM_002206.3:c.2561G>A MANE Select	NP_002197.2:p.Arg854Lys