Canonical Allele Identifier: CA8770543

Gene: ITGB4 GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75757278C>T , CM000679.2:g.75757278C>T	GRCh38
NC_000017.10:g.73753359C>T , CM000679.1:g.73753359C>T	GRCh37
NC_000017.9:g.71264954C>T	NCBI36
NG_007372.1:g.40844C>T
NG_008079.1:g.12922G>A
NG_008079.2:g.12922G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000213.5:c.5297C>T (ITGB4) MANE Select	NP_000204.3:p.Thr1766Ile
ENST00000200181.8:c.5297C>T (ITGB4) MANE Select	ENSP00000200181.3:p.Thr1766Ile
NM_000213.3:c.5297C>T (ITGB4)	NP_000204.3:p.Thr1766Ile
NM_000213.4:c.5297C>T (ITGB4)	NP_000204.3:p.Thr1766Ile
NM_001005619.1:c.5246C>T (ITGB4)	NP_001005619.1:p.Thr1749Ile
NM_001005731.1:c.5087C>T (ITGB4)	NP_001005731.1:p.Thr1696Ile
NM_001005731.2:c.5087C>T (ITGB4)	NP_001005731.1:p.Thr1696Ile
NM_001005731.3:c.5087C>T (ITGB4)	NP_001005731.1:p.Thr1696Ile
NM_001321123.1:c.5087C>T (ITGB4)	NP_001308052.1:p.Thr1696Ile
NM_001321123.2:c.5087C>T (ITGB4)	NP_001308052.1:p.Thr1696Ile
NM_001381985.1:c.*22+756G>A (GALK1)	NP_001368914.1:n.*22+756G>A
ENST00000200181.7:c.5297C>T (ITGB4)	ENSP00000200181.3:p.Thr1766Ile
ENST00000225614.6:c.*22+756G>A (GALK1)	ENSP00000225614.1:n.*22+756G>A
ENST00000449880.6:c.5246C>T (ITGB4)	ENSP00000400217.2:p.Thr1749Ile
ENST00000449880.7:c.5246C>T (ITGB4)	ENSP00000400217.2:p.Thr1749Ile
ENST00000450894.7:c.5087C>T (ITGB4)	ENSP00000405536.3:p.Thr1696Ile
ENST00000578318.1:c.148C>T (ITGB4)
ENST00000579662.5:c.5087C>T (ITGB4)	ENSP00000463651.1:p.Thr1696Ile
ENST00000582629.1:c.266-348C>T (ITGB4)	ENSP00000463788.1:n.266-348C>T
ENST00000589643.1:n.254+756G>A (GALK1)
XM_005257309.2:c.5456C>T (ITGB4)	XP_005257366.1:p.Thr1819Ile
XM_005257311.3:c.5456C>T (ITGB4)	XP_005257368.1:p.Thr1819Ile
XM_005257311.4:c.5456C>T (ITGB4)	XP_005257368.1:p.Thr1819Ile
XM_005257312.2:c.5087C>T (ITGB4)	XP_005257369.1:p.Thr1696Ile
XM_006721866.2:c.5561C>T (ITGB4)	XP_006721929.1:p.Thr1854Ile
XM_006721866.3:c.5561C>T (ITGB4)	XP_006721929.1:p.Thr1854Ile
XM_006721867.2:c.5402C>T (ITGB4)	XP_006721930.1:p.Thr1801Ile
XM_006721867.3:c.5402C>T (ITGB4)	XP_006721930.1:p.Thr1801Ile
XM_006721868.2:c.5351C>T (ITGB4)	XP_006721931.1:p.Thr1784Ile
XM_006721868.3:c.5351C>T (ITGB4)	XP_006721931.1:p.Thr1784Ile
XM_006721870.2:c.5192C>T (ITGB4)	XP_006721933.1:p.Thr1731Ile
XM_006721870.3:c.5192C>T (ITGB4)	XP_006721933.1:p.Thr1731Ile
XM_011524751.1:c.5252C>T (ITGB4)	XP_011523053.1:p.Thr1751Ile
XM_011524751.2:c.5252C>T (ITGB4)	XP_011523053.1:p.Thr1751Ile
XM_011524752.1:c.3401C>T (ITGB4)	XP_011523054.1:p.Thr1134Ile
XM_011524752.2:c.3401C>T (ITGB4)	XP_011523054.1:p.Thr1134Ile