Canonical Allele Identifier: CA1968571
Community Standard Title: NM_000210.4(ITGA6):c.3000T>C (p.Thr1000=)
Gene: ITGA6 HGNC NCBI
ITGA6-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.172497986T>C , CM000664.2:g.172497986T>C GRCh38
NC_000002.11:g.173362714T>C , CM000664.1:g.173362714T>C GRCh37
NC_000002.10:g.173070960T>C NCBI36
NG_008853.1:g.75401T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000210.4:c.3000T>C (ITGA6) MANE Select NP_000201.2:p.Thr1000=
ENST00000684293.1:c.3000T>C (ITGA6) MANE Select ENSP00000508249.1:p.Thr1000=
NM_001394928.1:c.3117T>C (ITGA6) MANE Plus Clinical NP_001381857.1:p.Thr1039=
ENST00000442250.6:c.3117T>C (ITGA6) MANE Plus Clinical ENSP00000406694.1:p.Thr1039=
NM_000210.2:c.3000T>C (ITGA6) NP_000201.2:p.Thr1000=
NM_000210.3:c.3000T>C (ITGA6) NP_000201.2:p.Thr1000=
NM_001079818.1:c.3000T>C (ITGA6) NP_001073286.1:p.Thr1000=
NM_001079818.2:c.3000T>C (ITGA6) NP_001073286.1:p.Thr1000=
NM_001079818.3:c.3000T>C (ITGA6) NP_001073286.1:p.Thr1000=
NM_001316306.1:c.2643T>C (ITGA6) NP_001303235.1:p.Thr881=
NM_001316306.2:c.2643T>C (ITGA6) NP_001303235.1:p.Thr881=
NM_001365529.1:c.2955T>C (ITGA6) NP_001352458.1:p.Thr985=
NM_001365529.2:c.2955T>C (ITGA6) NP_001352458.1:p.Thr985=
NM_001365530.1:c.2955T>C (ITGA6) NP_001352459.1:p.Thr985=
NM_001365530.2:c.2955T>C (ITGA6) NP_001352459.1:p.Thr985=
ENST00000264107.11:c.3000T>C (ITGA6) ENSP00000264107.7:p.Thr1000=
ENST00000264107.12:c.2955T>C (ITGA6) ENSP00000264107.8:p.Thr985=
ENST00000409080.5:c.3000T>C (ITGA6) ENSP00000386896.1:p.Thr1000=
ENST00000409080.6:c.3000T>C (ITGA6) ENSP00000386896.1:p.Thr1000=
ENST00000409532.5:c.2643T>C (ITGA6) ENSP00000386614.1:p.Thr881=
ENST00000416789.1:c.501T>C (ITGA6) ENSP00000388435.1:p.Thr167=
ENST00000442250.5:c.3117T>C (ITGA6) ENSP00000406694.1:p.Thr1039=
ENST00000458358.5:c.2985T>C (ITGA6) ENSP00000394169.1:p.Thr995=
ENST00000475302.1:n.416T>C (ITGA6)
XM_006712510.1:c.2955T>C (ITGA6) XP_006712573.1:p.Thr985=
XM_006712511.1:c.2955T>C (ITGA6) XP_006712574.1:p.Thr985=
XM_017004005.1:c.2658T>C (ITGA6) XP_016859494.1:p.Thr886=
XM_017004006.1:c.2613T>C (ITGA6) XP_016859495.1:p.Thr871=
XM_017004007.1:c.2658T>C (ITGA6) XP_016859496.1:p.Thr886=
XM_017004008.1:c.2613T>C (ITGA6) XP_016859497.1:p.Thr871=
XR_001739781.1:n.268-2470A>G (ITGA6-AS1)
XR_001739782.1:n.268-2470A>G (ITGA6-AS1)
XR_001739783.1:n.268-2470A>G (ITGA6-AS1)
XR_001739784.1:n.268-2470A>G (ITGA6-AS1)
XR_001739785.1:n.268-2470A>G (ITGA6-AS1)
XR_001739786.1:n.268-2470A>G (ITGA6-AS1)
XR_001739787.1:n.268-2470A>G (ITGA6-AS1)
XR_001739788.1:n.268-1760A>G (ITGA6-AS1)
XR_001739789.1:n.268-2470A>G (ITGA6-AS1)
XR_001739790.1:n.268-2470A>G (ITGA6-AS1)
XR_001739791.2:n.268-2470A>G (ITGA6-AS1)
XR_001739792.2:n.268-2470A>G (ITGA6-AS1)