Canonical Allele Identifier: CA385181757

Gene: ITGA7

Linked Data

• MyVariant Identifiers: chr12:g.56087059A>G (hg19) ; chr12:g.55693275A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693275A>G , CM000674.2:g.55693275A>G	GRCh38
NC_000012.11:g.56087059A>G , CM000674.1:g.56087059A>G	GRCh37
NC_000012.10:g.54373326A>G	NCBI36
NG_012343.1:g.24031T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2202T>C	ENSP00000452467.1:n.*2202T>C
ENST00000554327.6:c.1249T>C
ENST00000557058.2:n.1993T>C
ENST00000557257.2:c.2104T>C	ENSP00000450578.2:p.Phe702Leu
ENST00000557555.3:c.2590T>C	ENSP00000451039.3:p.Phe864Leu
ENST00000686981.1:c.*2289T>C	ENSP00000510795.1:n.*2289T>C
ENST00000687390.1:n.684T>C
ENST00000691052.1:c.*1062T>C	ENSP00000508886.1:n.*1062T>C
ENST00000691846.1:c.1391T>C
ENST00000691973.1:c.2590T>C	ENSP00000509141.1:p.Phe864Leu
ENST00000257879.11:c.2578T>C MANE Select	ENSP00000257879.7:p.Phe860Leu
ENST00000553804.6:c.2590T>C	ENSP00000452120.1:p.Phe864Leu
ENST00000257879.10:c.2578T>C	ENSP00000257879.6:p.Phe860Leu
ENST00000347027.10:c.2560T>C	ENSP00000343009.6:p.Phe854Leu
ENST00000452168.6:c.2299T>C	ENSP00000393844.2:p.Phe767Leu
ENST00000553804.5:c.2590T>C	ENSP00000452120.1:p.Phe864Leu
ENST00000554327.5:c.643T>C
ENST00000555728.5:c.2710T>C	ENSP00000452387.1:p.Phe904Leu
NM_001144996.1:c.2590T>C	NP_001138468.1:p.Phe864Leu
NM_001144997.1:c.2299T>C	NP_001138469.1:p.Phe767Leu
NM_002206.2:c.2578T>C	NP_002197.2:p.Phe860Leu
XM_005268839.1:c.2710T>C	XP_005268896.1:p.Phe904Leu
XM_005268840.1:c.2692T>C	XP_005268897.1:p.Phe898Leu
XM_005268841.1:c.2710T>C	XP_005268898.1:p.Phe904Leu
XM_005268842.1:c.2560T>C	XP_005268899.1:p.Phe854Leu
XM_005268844.1:c.2371T>C	XP_005268901.1:p.Phe791Leu
XM_005268845.1:c.2239T>C	XP_005268902.1:p.Phe747Leu
XM_005268846.1:c.2239T>C	XP_005268903.1:p.Phe747Leu
XM_005268847.1:c.2236T>C	XP_005268904.1:p.Phe746Leu
XM_005268848.1:c.2236T>C	XP_005268905.1:p.Phe746Leu
XM_005268849.1:c.2236T>C	XP_005268906.1:p.Phe746Leu
XM_005268850.1:c.2104T>C	XP_005268907.1:p.Phe702Leu
XM_011538286.1:c.2371T>C	XP_011536588.1:p.Phe791Leu
XM_005268839.2:c.2710T>C	XP_005268896.1:p.Phe904Leu
XM_005268840.2:c.2692T>C	XP_005268897.1:p.Phe898Leu
XM_005268841.2:c.2710T>C	XP_005268898.1:p.Phe904Leu
XM_005268842.2:c.2560T>C	XP_005268899.1:p.Phe854Leu
XM_017019265.1:c.2320T>C	XP_016874754.1:p.Phe774Leu
NM_001144996.2:c.2590T>C	NP_001138468.1:p.Phe864Leu
NM_001367993.1:c.2251T>C	NP_001354922.1:p.Phe751Leu
NM_001367994.1:c.1234T>C	NP_001354923.1:p.Phe412Leu
NM_001374465.1:c.2560T>C	NP_001361394.1:p.Phe854Leu
NM_002206.3:c.2578T>C MANE Select	NP_002197.2:p.Phe860Leu