Canonical Allele Identifier: CA1968502
Community Standard Title: NM_000210.4(ITGA6):c.2819C>T (p.Pro940Leu)
Gene: ITGA6 HGNC NCBI
ITGA6-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.172491261C>T , CM000664.2:g.172491261C>T GRCh38
NC_000002.11:g.173355989C>T , CM000664.1:g.173355989C>T GRCh37
NC_000002.10:g.173064235C>T NCBI36
NG_008853.1:g.68676C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000210.4:c.2819C>T (ITGA6) MANE Select NP_000201.2:p.Pro940Leu
ENST00000684293.1:c.2819C>T (ITGA6) MANE Select ENSP00000508249.1:p.Pro940Leu
NM_001394928.1:c.2936C>T (ITGA6) MANE Plus Clinical NP_001381857.1:p.Pro979Leu
ENST00000442250.6:c.2936C>T (ITGA6) MANE Plus Clinical ENSP00000406694.1:p.Pro979Leu
NM_000210.2:c.2819C>T (ITGA6) NP_000201.2:p.Pro940Leu
NM_000210.3:c.2819C>T (ITGA6) NP_000201.2:p.Pro940Leu
NM_001079818.1:c.2819C>T (ITGA6) NP_001073286.1:p.Pro940Leu
NM_001079818.2:c.2819C>T (ITGA6) NP_001073286.1:p.Pro940Leu
NM_001079818.3:c.2819C>T (ITGA6) NP_001073286.1:p.Pro940Leu
NM_001316306.1:c.2462C>T (ITGA6) NP_001303235.1:p.Pro821Leu
NM_001316306.2:c.2462C>T (ITGA6) NP_001303235.1:p.Pro821Leu
NM_001365529.1:c.2774C>T (ITGA6) NP_001352458.1:p.Pro925Leu
NM_001365529.2:c.2774C>T (ITGA6) NP_001352458.1:p.Pro925Leu
NM_001365530.1:c.2774C>T (ITGA6) NP_001352459.1:p.Pro925Leu
NM_001365530.2:c.2774C>T (ITGA6) NP_001352459.1:p.Pro925Leu
ENST00000264107.11:c.2819C>T (ITGA6) ENSP00000264107.7:p.Pro940Leu
ENST00000264107.12:c.2774C>T (ITGA6) ENSP00000264107.8:p.Pro925Leu
ENST00000409080.5:c.2819C>T (ITGA6) ENSP00000386896.1:p.Pro940Leu
ENST00000409080.6:c.2819C>T (ITGA6) ENSP00000386896.1:p.Pro940Leu
ENST00000409532.5:c.2462C>T (ITGA6) ENSP00000386614.1:p.Pro821Leu
ENST00000416789.1:c.320C>T (ITGA6) ENSP00000388435.1:p.Pro107Leu
ENST00000442250.5:c.2936C>T (ITGA6) ENSP00000406694.1:p.Pro979Leu
ENST00000458358.5:c.2804C>T (ITGA6) ENSP00000394169.1:p.Pro935Leu
ENST00000475302.1:n.235C>T (ITGA6)
XM_006712510.1:c.2774C>T (ITGA6) XP_006712573.1:p.Pro925Leu
XM_006712511.1:c.2774C>T (ITGA6) XP_006712574.1:p.Pro925Leu
XM_017004005.1:c.2477C>T (ITGA6) XP_016859494.1:p.Pro826Leu
XM_017004006.1:c.2432C>T (ITGA6) XP_016859495.1:p.Pro811Leu
XM_017004007.1:c.2477C>T (ITGA6) XP_016859496.1:p.Pro826Leu
XM_017004008.1:c.2432C>T (ITGA6) XP_016859497.1:p.Pro811Leu
XR_001739781.1:n.409+4114G>A (ITGA6-AS1)
XR_001739782.1:n.409+4114G>A (ITGA6-AS1)
XR_001739783.1:n.410-2612G>A (ITGA6-AS1)
XR_001739784.1:n.409+4114G>A (ITGA6-AS1)
XR_001739785.1:n.409+4114G>A (ITGA6-AS1)
XR_001739786.1:n.410-2612G>A (ITGA6-AS1)
XR_001739787.1:n.409+4114G>A (ITGA6-AS1)
XR_001739788.1:n.504+4114G>A (ITGA6-AS1)
XR_001739790.1:n.410-2612G>A (ITGA6-AS1)
XR_001739791.2:n.410-2612G>A (ITGA6-AS1)
XR_001739792.2:n.409+4114G>A (ITGA6-AS1)