Canonical Allele Identifier: CA385181749

Gene: ITGA7

Linked Data

• MyVariant Identifiers: chr12:g.56087056G>A (hg19) ; chr12:g.55693272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693272G>A , CM000674.2:g.55693272G>A	GRCh38
NC_000012.11:g.56087056G>A , CM000674.1:g.56087056G>A	GRCh37
NC_000012.10:g.54373323G>A	NCBI36
NG_012343.1:g.24034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2205C>T	ENSP00000452467.1:n.*2205C>T
ENST00000554327.6:c.1252C>T
ENST00000557058.2:n.1996C>T
ENST00000557257.2:c.2107C>T	ENSP00000450578.2:p.Leu703Phe
ENST00000557555.3:c.2593C>T	ENSP00000451039.3:p.Leu865Phe
ENST00000686981.1:c.*2292C>T	ENSP00000510795.1:n.*2292C>T
ENST00000687390.1:n.687C>T
ENST00000691052.1:c.*1065C>T	ENSP00000508886.1:n.*1065C>T
ENST00000691846.1:c.1394C>T
ENST00000691973.1:c.2593C>T	ENSP00000509141.1:p.Leu865Phe
ENST00000257879.11:c.2581C>T MANE Select	ENSP00000257879.7:p.Leu861Phe
ENST00000553804.6:c.2593C>T	ENSP00000452120.1:p.Leu865Phe
ENST00000257879.10:c.2581C>T	ENSP00000257879.6:p.Leu861Phe
ENST00000347027.10:c.2563C>T	ENSP00000343009.6:p.Leu855Phe
ENST00000452168.6:c.2302C>T	ENSP00000393844.2:p.Leu768Phe
ENST00000553804.5:c.2593C>T	ENSP00000452120.1:p.Leu865Phe
ENST00000554327.5:c.646C>T
ENST00000555728.5:c.2713C>T	ENSP00000452387.1:p.Leu905Phe
NM_001144996.1:c.2593C>T	NP_001138468.1:p.Leu865Phe
NM_001144997.1:c.2302C>T	NP_001138469.1:p.Leu768Phe
NM_002206.2:c.2581C>T	NP_002197.2:p.Leu861Phe
XM_005268839.1:c.2713C>T	XP_005268896.1:p.Leu905Phe
XM_005268840.1:c.2695C>T	XP_005268897.1:p.Leu899Phe
XM_005268841.1:c.2713C>T	XP_005268898.1:p.Leu905Phe
XM_005268842.1:c.2563C>T	XP_005268899.1:p.Leu855Phe
XM_005268844.1:c.2374C>T	XP_005268901.1:p.Leu792Phe
XM_005268845.1:c.2242C>T	XP_005268902.1:p.Leu748Phe
XM_005268846.1:c.2242C>T	XP_005268903.1:p.Leu748Phe
XM_005268847.1:c.2239C>T	XP_005268904.1:p.Leu747Phe
XM_005268848.1:c.2239C>T	XP_005268905.1:p.Leu747Phe
XM_005268849.1:c.2239C>T	XP_005268906.1:p.Leu747Phe
XM_005268850.1:c.2107C>T	XP_005268907.1:p.Leu703Phe
XM_011538286.1:c.2374C>T	XP_011536588.1:p.Leu792Phe
XM_005268839.2:c.2713C>T	XP_005268896.1:p.Leu905Phe
XM_005268840.2:c.2695C>T	XP_005268897.1:p.Leu899Phe
XM_005268841.2:c.2713C>T	XP_005268898.1:p.Leu905Phe
XM_005268842.2:c.2563C>T	XP_005268899.1:p.Leu855Phe
XM_017019265.1:c.2323C>T	XP_016874754.1:p.Leu775Phe
NM_001144996.2:c.2593C>T	NP_001138468.1:p.Leu865Phe
NM_001367993.1:c.2254C>T	NP_001354922.1:p.Leu752Phe
NM_001367994.1:c.1237C>T	NP_001354923.1:p.Leu413Phe
NM_001374465.1:c.2563C>T	NP_001361394.1:p.Leu855Phe
NM_002206.3:c.2581C>T MANE Select	NP_002197.2:p.Leu861Phe