Canonical Allele Identifier: CA385181820

Gene: ITGA7

Linked Data

• MyVariant Identifiers: chr12:g.56087091T>A (hg19) ; chr12:g.55693307T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693307T>A , CM000674.2:g.55693307T>A	GRCh38
NC_000012.11:g.56087091T>A , CM000674.1:g.56087091T>A	GRCh37
NC_000012.10:g.54373358T>A	NCBI36
NG_012343.1:g.23999A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2170A>T	ENSP00000452467.1:n.*2170A>T
ENST00000554327.6:c.1217A>T
ENST00000557058.2:n.1961A>T
ENST00000557257.2:c.2072A>T	ENSP00000450578.2:p.Gln691Leu
ENST00000557555.3:c.2558A>T	ENSP00000451039.3:p.Gln853Leu
ENST00000686981.1:c.*2257A>T	ENSP00000510795.1:n.*2257A>T
ENST00000687390.1:n.652A>T
ENST00000691052.1:c.*1030A>T	ENSP00000508886.1:n.*1030A>T
ENST00000691846.1:c.1359A>T
ENST00000691973.1:c.2558A>T	ENSP00000509141.1:p.Gln853Leu
ENST00000257879.11:c.2546A>T MANE Select	ENSP00000257879.7:p.Gln849Leu
ENST00000553804.6:c.2558A>T	ENSP00000452120.1:p.Gln853Leu
ENST00000257879.10:c.2546A>T	ENSP00000257879.6:p.Gln849Leu
ENST00000347027.10:c.2528A>T	ENSP00000343009.6:p.Gln843Leu
ENST00000452168.6:c.2267A>T	ENSP00000393844.2:p.Gln756Leu
ENST00000553804.5:c.2558A>T	ENSP00000452120.1:p.Gln853Leu
ENST00000554327.5:c.611A>T
ENST00000555728.5:c.2678A>T	ENSP00000452387.1:p.Gln893Leu
NM_001144996.1:c.2558A>T	NP_001138468.1:p.Gln853Leu
NM_001144997.1:c.2267A>T	NP_001138469.1:p.Gln756Leu
NM_002206.2:c.2546A>T	NP_002197.2:p.Gln849Leu
XM_005268839.1:c.2678A>T	XP_005268896.1:p.Gln893Leu
XM_005268840.1:c.2660A>T	XP_005268897.1:p.Gln887Leu
XM_005268841.1:c.2678A>T	XP_005268898.1:p.Gln893Leu
XM_005268842.1:c.2528A>T	XP_005268899.1:p.Gln843Leu
XM_005268844.1:c.2339A>T	XP_005268901.1:p.Gln780Leu
XM_005268845.1:c.2207A>T	XP_005268902.1:p.Gln736Leu
XM_005268846.1:c.2207A>T	XP_005268903.1:p.Gln736Leu
XM_005268847.1:c.2204A>T	XP_005268904.1:p.Gln735Leu
XM_005268848.1:c.2204A>T	XP_005268905.1:p.Gln735Leu
XM_005268849.1:c.2204A>T	XP_005268906.1:p.Gln735Leu
XM_005268850.1:c.2072A>T	XP_005268907.1:p.Gln691Leu
XM_011538286.1:c.2339A>T	XP_011536588.1:p.Gln780Leu
XM_005268839.2:c.2678A>T	XP_005268896.1:p.Gln893Leu
XM_005268840.2:c.2660A>T	XP_005268897.1:p.Gln887Leu
XM_005268841.2:c.2678A>T	XP_005268898.1:p.Gln893Leu
XM_005268842.2:c.2528A>T	XP_005268899.1:p.Gln843Leu
XM_017019265.1:c.2288A>T	XP_016874754.1:p.Gln763Leu
NM_001144996.2:c.2558A>T	NP_001138468.1:p.Gln853Leu
NM_001367993.1:c.2219A>T	NP_001354922.1:p.Gln740Leu
NM_001367994.1:c.1202A>T	NP_001354923.1:p.Gln401Leu
NM_001374465.1:c.2528A>T	NP_001361394.1:p.Gln843Leu
NM_002206.3:c.2546A>T MANE Select	NP_002197.2:p.Gln849Leu