Canonical Allele Identifier: CA480145539

Gene: ITGA7

Linked Data

• MyVariant Identifiers: chr12:g.56087054G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693270G>C , CM000674.2:g.55693270G>C	GRCh38
NC_000012.11:g.56087054G>C , CM000674.1:g.56087054G>C	GRCh37
NC_000012.10:g.54373321G>C	NCBI36
NG_012343.1:g.24036C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2207C>G	ENSP00000452467.1:n.*2207C>G
ENST00000554327.6:c.1254C>G
ENST00000557058.2:n.1998C>G
ENST00000557257.2:c.2109C>G	ENSP00000450578.2:p.Leu703=
ENST00000557555.3:c.2595C>G	ENSP00000451039.3:p.Leu865=
ENST00000686981.1:c.*2294C>G	ENSP00000510795.1:n.*2294C>G
ENST00000687390.1:n.689C>G
ENST00000691052.1:c.*1067C>G	ENSP00000508886.1:n.*1067C>G
ENST00000691846.1:c.1396C>G
ENST00000691973.1:c.2595C>G	ENSP00000509141.1:p.Leu865=
ENST00000257879.11:c.2583C>G MANE Select	ENSP00000257879.7:p.Leu861=
ENST00000553804.6:c.2595C>G	ENSP00000452120.1:p.Leu865=
ENST00000257879.10:c.2583C>G	ENSP00000257879.6:p.Leu861=
ENST00000347027.10:c.2565C>G	ENSP00000343009.6:p.Leu855=
ENST00000452168.6:c.2304C>G	ENSP00000393844.2:p.Leu768=
ENST00000553804.5:c.2595C>G	ENSP00000452120.1:p.Leu865=
ENST00000554327.5:c.648C>G
ENST00000555728.5:c.2715C>G	ENSP00000452387.1:p.Leu905=
NM_001144996.1:c.2595C>G	NP_001138468.1:p.Leu865=
NM_001144997.1:c.2304C>G	NP_001138469.1:p.Leu768=
NM_002206.2:c.2583C>G	NP_002197.2:p.Leu861=
XM_005268839.1:c.2715C>G	XP_005268896.1:p.Leu905=
XM_005268840.1:c.2697C>G	XP_005268897.1:p.Leu899=
XM_005268841.1:c.2715C>G	XP_005268898.1:p.Leu905=
XM_005268842.1:c.2565C>G	XP_005268899.1:p.Leu855=
XM_005268844.1:c.2376C>G	XP_005268901.1:p.Leu792=
XM_005268845.1:c.2244C>G	XP_005268902.1:p.Leu748=
XM_005268846.1:c.2244C>G	XP_005268903.1:p.Leu748=
XM_005268847.1:c.2241C>G	XP_005268904.1:p.Leu747=
XM_005268848.1:c.2241C>G	XP_005268905.1:p.Leu747=
XM_005268849.1:c.2241C>G	XP_005268906.1:p.Leu747=
XM_005268850.1:c.2109C>G	XP_005268907.1:p.Leu703=
XM_011538286.1:c.2376C>G	XP_011536588.1:p.Leu792=
XM_005268839.2:c.2715C>G	XP_005268896.1:p.Leu905=
XM_005268840.2:c.2697C>G	XP_005268897.1:p.Leu899=
XM_005268841.2:c.2715C>G	XP_005268898.1:p.Leu905=
XM_005268842.2:c.2565C>G	XP_005268899.1:p.Leu855=
XM_017019265.1:c.2325C>G	XP_016874754.1:p.Leu775=
NM_001144996.2:c.2595C>G	NP_001138468.1:p.Leu865=
NM_001367993.1:c.2256C>G	NP_001354922.1:p.Leu752=
NM_001367994.1:c.1239C>G	NP_001354923.1:p.Leu413=
NM_001374465.1:c.2565C>G	NP_001361394.1:p.Leu855=
NM_002206.3:c.2583C>G MANE Select	NP_002197.2:p.Leu861=