Canonical Allele Identifier: CA385181730

Gene: ITGA7

Linked Data

• gnomAD v4: 12-55693263-T-G
• MyVariant Identifiers: chr12:g.56087047T>G (hg19) ; chr12:g.55693263T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693263T>G , CM000674.2:g.55693263T>G	GRCh38
NC_000012.11:g.56087047T>G , CM000674.1:g.56087047T>G	GRCh37
NC_000012.10:g.54373314T>G	NCBI36
NG_012343.1:g.24043A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2214A>C	ENSP00000452467.1:n.*2214A>C
ENST00000554327.6:c.1261A>C
ENST00000557058.2:n.2005A>C
ENST00000557257.2:c.2116A>C	ENSP00000450578.2:p.Met706Leu
ENST00000557555.3:c.2602A>C	ENSP00000451039.3:p.Met868Leu
ENST00000686981.1:c.*2301A>C	ENSP00000510795.1:n.*2301A>C
ENST00000687390.1:n.696A>C
ENST00000691052.1:c.*1074A>C	ENSP00000508886.1:n.*1074A>C
ENST00000691846.1:c.1403A>C
ENST00000691973.1:c.2602A>C	ENSP00000509141.1:p.Met868Leu
ENST00000257879.11:c.2590A>C MANE Select	ENSP00000257879.7:p.Met864Leu
ENST00000553804.6:c.2602A>C	ENSP00000452120.1:p.Met868Leu
ENST00000257879.10:c.2590A>C	ENSP00000257879.6:p.Met864Leu
ENST00000347027.10:c.2572A>C	ENSP00000343009.6:p.Met858Leu
ENST00000452168.6:c.2311A>C	ENSP00000393844.2:p.Met771Leu
ENST00000553804.5:c.2602A>C	ENSP00000452120.1:p.Met868Leu
ENST00000554327.5:c.655A>C
ENST00000555728.5:c.2722A>C	ENSP00000452387.1:p.Met908Leu
NM_001144996.1:c.2602A>C	NP_001138468.1:p.Met868Leu
NM_001144997.1:c.2311A>C	NP_001138469.1:p.Met771Leu
NM_002206.2:c.2590A>C	NP_002197.2:p.Met864Leu
XM_005268839.1:c.2722A>C	XP_005268896.1:p.Met908Leu
XM_005268840.1:c.2704A>C	XP_005268897.1:p.Met902Leu
XM_005268841.1:c.2722A>C	XP_005268898.1:p.Met908Leu
XM_005268842.1:c.2572A>C	XP_005268899.1:p.Met858Leu
XM_005268844.1:c.2383A>C	XP_005268901.1:p.Met795Leu
XM_005268845.1:c.2251A>C	XP_005268902.1:p.Met751Leu
XM_005268846.1:c.2251A>C	XP_005268903.1:p.Met751Leu
XM_005268847.1:c.2248A>C	XP_005268904.1:p.Met750Leu
XM_005268848.1:c.2248A>C	XP_005268905.1:p.Met750Leu
XM_005268849.1:c.2248A>C	XP_005268906.1:p.Met750Leu
XM_005268850.1:c.2116A>C	XP_005268907.1:p.Met706Leu
XM_011538286.1:c.2383A>C	XP_011536588.1:p.Met795Leu
XM_005268839.2:c.2722A>C	XP_005268896.1:p.Met908Leu
XM_005268840.2:c.2704A>C	XP_005268897.1:p.Met902Leu
XM_005268841.2:c.2722A>C	XP_005268898.1:p.Met908Leu
XM_005268842.2:c.2572A>C	XP_005268899.1:p.Met858Leu
XM_017019265.1:c.2332A>C	XP_016874754.1:p.Met778Leu
NM_001144996.2:c.2602A>C	NP_001138468.1:p.Met868Leu
NM_001367993.1:c.2263A>C	NP_001354922.1:p.Met755Leu
NM_001367994.1:c.1246A>C	NP_001354923.1:p.Met416Leu
NM_001374465.1:c.2572A>C	NP_001361394.1:p.Met858Leu
NM_002206.3:c.2590A>C MANE Select	NP_002197.2:p.Met864Leu