Canonical Allele Identifier: CA385181723

Gene: ITGA7

Linked Data

• dbSNP Id: rs2135990429
• MyVariant Identifiers: chr12:g.56087045C>G (hg19) ; chr12:g.55693261C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693261C>G , CM000674.2:g.55693261C>G	GRCh38
NC_000012.11:g.56087045C>G , CM000674.1:g.56087045C>G	GRCh37
NC_000012.10:g.54373312C>G	NCBI36
NG_012343.1:g.24045G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2216G>C	ENSP00000452467.1:n.*2216G>C
ENST00000554327.6:c.1263G>C
ENST00000557058.2:n.2007G>C
ENST00000557257.2:c.2118G>C	ENSP00000450578.2:p.Met706Ile
ENST00000557555.3:c.2604G>C	ENSP00000451039.3:p.Met868Ile
ENST00000686981.1:c.*2303G>C	ENSP00000510795.1:n.*2303G>C
ENST00000687390.1:n.698G>C
ENST00000691052.1:c.*1076G>C	ENSP00000508886.1:n.*1076G>C
ENST00000691846.1:c.1405G>C
ENST00000691973.1:c.2604G>C	ENSP00000509141.1:p.Met868Ile
ENST00000257879.11:c.2592G>C MANE Select	ENSP00000257879.7:p.Met864Ile
ENST00000553804.6:c.2604G>C	ENSP00000452120.1:p.Met868Ile
ENST00000257879.10:c.2592G>C	ENSP00000257879.6:p.Met864Ile
ENST00000347027.10:c.2574G>C	ENSP00000343009.6:p.Met858Ile
ENST00000452168.6:c.2313G>C	ENSP00000393844.2:p.Met771Ile
ENST00000553804.5:c.2604G>C	ENSP00000452120.1:p.Met868Ile
ENST00000554327.5:c.657G>C
ENST00000555728.5:c.2724G>C	ENSP00000452387.1:p.Met908Ile
NM_001144996.1:c.2604G>C	NP_001138468.1:p.Met868Ile
NM_001144997.1:c.2313G>C	NP_001138469.1:p.Met771Ile
NM_002206.2:c.2592G>C	NP_002197.2:p.Met864Ile
XM_005268839.1:c.2724G>C	XP_005268896.1:p.Met908Ile
XM_005268840.1:c.2706G>C	XP_005268897.1:p.Met902Ile
XM_005268841.1:c.2724G>C	XP_005268898.1:p.Met908Ile
XM_005268842.1:c.2574G>C	XP_005268899.1:p.Met858Ile
XM_005268844.1:c.2385G>C	XP_005268901.1:p.Met795Ile
XM_005268845.1:c.2253G>C	XP_005268902.1:p.Met751Ile
XM_005268846.1:c.2253G>C	XP_005268903.1:p.Met751Ile
XM_005268847.1:c.2250G>C	XP_005268904.1:p.Met750Ile
XM_005268848.1:c.2250G>C	XP_005268905.1:p.Met750Ile
XM_005268849.1:c.2250G>C	XP_005268906.1:p.Met750Ile
XM_005268850.1:c.2118G>C	XP_005268907.1:p.Met706Ile
XM_011538286.1:c.2385G>C	XP_011536588.1:p.Met795Ile
XM_005268839.2:c.2724G>C	XP_005268896.1:p.Met908Ile
XM_005268840.2:c.2706G>C	XP_005268897.1:p.Met902Ile
XM_005268841.2:c.2724G>C	XP_005268898.1:p.Met908Ile
XM_005268842.2:c.2574G>C	XP_005268899.1:p.Met858Ile
XM_017019265.1:c.2334G>C	XP_016874754.1:p.Met778Ile
NM_001144996.2:c.2604G>C	NP_001138468.1:p.Met868Ile
NM_001367993.1:c.2265G>C	NP_001354922.1:p.Met755Ile
NM_001367994.1:c.1248G>C	NP_001354923.1:p.Met416Ile
NM_001374465.1:c.2574G>C	NP_001361394.1:p.Met858Ile
NM_002206.3:c.2592G>C MANE Select	NP_002197.2:p.Met864Ile