Canonical Allele Identifier: CA385182585

Gene: ITGA7

Linked Data

• MyVariant Identifiers: chr12:g.56087870C>G (hg19) ; chr12:g.55694086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55694086C>G , CM000674.2:g.55694086C>G	GRCh38
NC_000012.11:g.56087870C>G , CM000674.1:g.56087870C>G	GRCh37
NC_000012.10:g.54374137C>G	NCBI36
NG_012343.1:g.23220G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2094G>C	ENSP00000452467.1:n.*2094G>C
ENST00000554327.6:c.1141G>C
ENST00000557058.2:n.1885G>C
ENST00000557257.2:c.1996G>C	ENSP00000450578.2:p.Val666Leu
ENST00000557555.3:c.2482G>C	ENSP00000451039.3:p.Val828Leu
ENST00000686981.1:c.*2181G>C	ENSP00000510795.1:n.*2181G>C
ENST00000687390.1:n.576G>C
ENST00000689678.1:n.626G>C
ENST00000691052.1:c.*954G>C	ENSP00000508886.1:n.*954G>C
ENST00000691846.1:c.1283G>C
ENST00000691973.1:c.2482G>C	ENSP00000509141.1:p.Val828Leu
ENST00000257879.11:c.2470G>C MANE Select	ENSP00000257879.7:p.Val824Leu
ENST00000553804.6:c.2482G>C	ENSP00000452120.1:p.Val828Leu
ENST00000257879.10:c.2470G>C	ENSP00000257879.6:p.Val824Leu
ENST00000347027.10:c.2452G>C	ENSP00000343009.6:p.Val818Leu
ENST00000452168.6:c.2191G>C	ENSP00000393844.2:p.Val731Leu
ENST00000553804.5:c.2482G>C	ENSP00000452120.1:p.Val828Leu
ENST00000554327.5:c.535G>C
ENST00000555728.5:c.2602G>C	ENSP00000452387.1:p.Val868Leu
NM_001144996.1:c.2482G>C	NP_001138468.1:p.Val828Leu
NM_001144997.1:c.2191G>C	NP_001138469.1:p.Val731Leu
NM_002206.2:c.2470G>C	NP_002197.2:p.Val824Leu
XM_005268839.1:c.2602G>C	XP_005268896.1:p.Val868Leu
XM_005268840.1:c.2584G>C	XP_005268897.1:p.Val862Leu
XM_005268841.1:c.2602G>C	XP_005268898.1:p.Val868Leu
XM_005268842.1:c.2452G>C	XP_005268899.1:p.Val818Leu
XM_005268844.1:c.2263G>C	XP_005268901.1:p.Val755Leu
XM_005268845.1:c.2131G>C	XP_005268902.1:p.Val711Leu
XM_005268846.1:c.2131G>C	XP_005268903.1:p.Val711Leu
XM_005268847.1:c.2128G>C	XP_005268904.1:p.Val710Leu
XM_005268848.1:c.2128G>C	XP_005268905.1:p.Val710Leu
XM_005268849.1:c.2128G>C	XP_005268906.1:p.Val710Leu
XM_005268850.1:c.1996G>C	XP_005268907.1:p.Val666Leu
XM_011538286.1:c.2263G>C	XP_011536588.1:p.Val755Leu
XM_005268839.2:c.2602G>C	XP_005268896.1:p.Val868Leu
XM_005268840.2:c.2584G>C	XP_005268897.1:p.Val862Leu
XM_005268841.2:c.2602G>C	XP_005268898.1:p.Val868Leu
XM_005268842.2:c.2452G>C	XP_005268899.1:p.Val818Leu
XM_017019265.1:c.2212G>C	XP_016874754.1:p.Val738Leu
NM_001144996.2:c.2482G>C	NP_001138468.1:p.Val828Leu
NM_001367993.1:c.2143G>C	NP_001354922.1:p.Val715Leu
NM_001367994.1:c.1126G>C	NP_001354923.1:p.Val376Leu
NM_001374465.1:c.2452G>C	NP_001361394.1:p.Val818Leu
NM_002206.3:c.2470G>C MANE Select	NP_002197.2:p.Val824Leu