Canonical Allele Identifier: CA385183327

Gene: ITGA7

Linked Data

• ClinVar Variation Id: 2100396
• ClinVar RCV Id: RCV003025882
• MyVariant Identifiers: chr12:g.56088403G>A (hg19) ; chr12:g.55694619G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55694619G>A , CM000674.2:g.55694619G>A	GRCh38
NC_000012.11:g.56088403G>A , CM000674.1:g.56088403G>A	GRCh37
NC_000012.10:g.54374670G>A	NCBI36
NG_012343.1:g.22687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*1897C>T	ENSP00000452467.1:n.*1897C>T
ENST00000554327.6:c.944C>T
ENST00000557058.2:n.1688C>T
ENST00000557257.2:c.1799C>T	ENSP00000450578.2:p.Ala600Val
ENST00000557555.3:c.2285C>T	ENSP00000451039.3:p.Ala762Val
ENST00000686981.1:c.*1984C>T	ENSP00000510795.1:n.*1984C>T
ENST00000687390.1:n.379C>T
ENST00000689678.1:n.297C>T
ENST00000691052.1:c.*757C>T	ENSP00000508886.1:n.*757C>T
ENST00000691846.1:c.1086C>T
ENST00000691973.1:c.2285C>T	ENSP00000509141.1:p.Ala762Val
ENST00000257879.11:c.2273C>T MANE Select	ENSP00000257879.7:p.Ala758Val
ENST00000553804.6:c.2285C>T	ENSP00000452120.1:p.Ala762Val
ENST00000257879.10:c.2273C>T	ENSP00000257879.6:p.Ala758Val
ENST00000347027.10:c.2255C>T	ENSP00000343009.6:p.Ala752Val
ENST00000452168.6:c.1994C>T	ENSP00000393844.2:p.Ala665Val
ENST00000553804.5:c.2285C>T	ENSP00000452120.1:p.Ala762Val
ENST00000554327.5:c.338C>T
ENST00000555728.5:c.2405C>T	ENSP00000452387.1:p.Ala802Val
NM_001144996.1:c.2285C>T	NP_001138468.1:p.Ala762Val
NM_001144997.1:c.1994C>T	NP_001138469.1:p.Ala665Val
NM_002206.2:c.2273C>T	NP_002197.2:p.Ala758Val
XM_005268839.1:c.2405C>T	XP_005268896.1:p.Ala802Val
XM_005268840.1:c.2387C>T	XP_005268897.1:p.Ala796Val
XM_005268841.1:c.2405C>T	XP_005268898.1:p.Ala802Val
XM_005268842.1:c.2255C>T	XP_005268899.1:p.Ala752Val
XM_005268844.1:c.2066C>T	XP_005268901.1:p.Ala689Val
XM_005268845.1:c.1934C>T	XP_005268902.1:p.Ala645Val
XM_005268846.1:c.1934C>T	XP_005268903.1:p.Ala645Val
XM_005268847.1:c.1931C>T	XP_005268904.1:p.Ala644Val
XM_005268848.1:c.1931C>T	XP_005268905.1:p.Ala644Val
XM_005268849.1:c.1931C>T	XP_005268906.1:p.Ala644Val
XM_005268850.1:c.1799C>T	XP_005268907.1:p.Ala600Val
XM_011538286.1:c.2066C>T	XP_011536588.1:p.Ala689Val
XM_005268839.2:c.2405C>T	XP_005268896.1:p.Ala802Val
XM_005268840.2:c.2387C>T	XP_005268897.1:p.Ala796Val
XM_005268841.2:c.2405C>T	XP_005268898.1:p.Ala802Val
XM_005268842.2:c.2255C>T	XP_005268899.1:p.Ala752Val
XM_017019265.1:c.2015C>T	XP_016874754.1:p.Ala672Val
NM_001144996.2:c.2285C>T	NP_001138468.1:p.Ala762Val
NM_001367993.1:c.1946C>T	NP_001354922.1:p.Ala649Val
NM_001367994.1:c.929C>T	NP_001354923.1:p.Ala310Val
NM_001374465.1:c.2255C>T	NP_001361394.1:p.Ala752Val
NM_002206.3:c.2273C>T MANE Select	NP_002197.2:p.Ala758Val