Canonical Allele Identifier: CA385181697

Gene: ITGA7

Linked Data

• gnomAD v4: 12-55693251-C-T
• MyVariant Identifiers: chr12:g.56087035C>T (hg19) ; chr12:g.55693251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693251C>T , CM000674.2:g.55693251C>T	GRCh38
NC_000012.11:g.56087035C>T , CM000674.1:g.56087035C>T	GRCh37
NC_000012.10:g.54373302C>T	NCBI36
NG_012343.1:g.24055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2226G>A	ENSP00000452467.1:n.*2226G>A
ENST00000554327.6:c.1273G>A
ENST00000557058.2:n.2017G>A
ENST00000557257.2:c.2128G>A	ENSP00000450578.2:p.Glu710Lys
ENST00000557555.3:c.2614G>A	ENSP00000451039.3:p.Glu872Lys
ENST00000686981.1:c.*2313G>A	ENSP00000510795.1:n.*2313G>A
ENST00000687390.1:n.708G>A
ENST00000691052.1:c.*1086G>A	ENSP00000508886.1:n.*1086G>A
ENST00000691846.1:c.1415G>A
ENST00000691973.1:c.2614G>A	ENSP00000509141.1:p.Glu872Lys
ENST00000257879.11:c.2602G>A MANE Select	ENSP00000257879.7:p.Glu868Lys
ENST00000553804.6:c.2614G>A	ENSP00000452120.1:p.Glu872Lys
ENST00000257879.10:c.2602G>A	ENSP00000257879.6:p.Glu868Lys
ENST00000347027.10:c.2584G>A	ENSP00000343009.6:p.Glu862Lys
ENST00000452168.6:c.2323G>A	ENSP00000393844.2:p.Glu775Lys
ENST00000553804.5:c.2614G>A	ENSP00000452120.1:p.Glu872Lys
ENST00000554327.5:c.667G>A
ENST00000555728.5:c.2734G>A	ENSP00000452387.1:p.Glu912Lys
NM_001144996.1:c.2614G>A	NP_001138468.1:p.Glu872Lys
NM_001144997.1:c.2323G>A	NP_001138469.1:p.Glu775Lys
NM_002206.2:c.2602G>A	NP_002197.2:p.Glu868Lys
XM_005268839.1:c.2734G>A	XP_005268896.1:p.Glu912Lys
XM_005268840.1:c.2716G>A	XP_005268897.1:p.Glu906Lys
XM_005268841.1:c.2734G>A	XP_005268898.1:p.Glu912Lys
XM_005268842.1:c.2584G>A	XP_005268899.1:p.Glu862Lys
XM_005268844.1:c.2395G>A	XP_005268901.1:p.Glu799Lys
XM_005268845.1:c.2263G>A	XP_005268902.1:p.Glu755Lys
XM_005268846.1:c.2263G>A	XP_005268903.1:p.Glu755Lys
XM_005268847.1:c.2260G>A	XP_005268904.1:p.Glu754Lys
XM_005268848.1:c.2260G>A	XP_005268905.1:p.Glu754Lys
XM_005268849.1:c.2260G>A	XP_005268906.1:p.Glu754Lys
XM_005268850.1:c.2128G>A	XP_005268907.1:p.Glu710Lys
XM_011538286.1:c.2395G>A	XP_011536588.1:p.Glu799Lys
XM_005268839.2:c.2734G>A	XP_005268896.1:p.Glu912Lys
XM_005268840.2:c.2716G>A	XP_005268897.1:p.Glu906Lys
XM_005268841.2:c.2734G>A	XP_005268898.1:p.Glu912Lys
XM_005268842.2:c.2584G>A	XP_005268899.1:p.Glu862Lys
XM_017019265.1:c.2344G>A	XP_016874754.1:p.Glu782Lys
NM_001144996.2:c.2614G>A	NP_001138468.1:p.Glu872Lys
NM_001367993.1:c.2275G>A	NP_001354922.1:p.Glu759Lys
NM_001367994.1:c.1258G>A	NP_001354923.1:p.Glu420Lys
NM_001374465.1:c.2584G>A	NP_001361394.1:p.Glu862Lys
NM_002206.3:c.2602G>A MANE Select	NP_002197.2:p.Glu868Lys