Canonical Allele Identifier: CA401089295

Gene: ITGB4 GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75756473G>A , CM000679.2:g.75756473G>A	GRCh38
NC_000017.10:g.73752554G>A , CM000679.1:g.73752554G>A	GRCh37
NC_000017.9:g.71264149G>A	NCBI36
NG_007372.1:g.40039G>A
NG_008079.1:g.13727C>T
NG_008079.2:g.13727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.4702G>A (ITGB4)	ENSP00000400217.2:p.Val1568Met
ENST00000200181.8:c.4753G>A (ITGB4) MANE Select	ENSP00000200181.3:p.Val1585Met
ENST00000200181.7:c.4753G>A (ITGB4)	ENSP00000200181.3:p.Val1585Met
ENST00000225614.6:c.*22+1561C>T (GALK1)	ENSP00000225614.1:n.*22+1561C>T
ENST00000449880.6:c.4702G>A (ITGB4)	ENSP00000400217.2:p.Val1568Met
ENST00000450894.7:c.4543G>A (ITGB4)	ENSP00000405536.3:p.Val1515Met
ENST00000579662.5:c.4543G>A (ITGB4)	ENSP00000463651.1:p.Val1515Met
ENST00000582629.1:c.266-1153G>A (ITGB4)	ENSP00000463788.1:n.266-1153G>A
ENST00000584939.1:c.243G>A (ITGB4)
ENST00000589643.1:n.254+1561C>T (GALK1)
NM_000213.3:c.4753G>A (ITGB4)	NP_000204.3:p.Val1585Met
NM_001005619.1:c.4702G>A (ITGB4)	NP_001005619.1:p.Val1568Met
NM_001005731.1:c.4543G>A (ITGB4)	NP_001005731.1:p.Val1515Met
XM_005257309.2:c.4912G>A (ITGB4)	XP_005257366.1:p.Val1638Met
XM_005257311.3:c.4912G>A (ITGB4)	XP_005257368.1:p.Val1638Met
XM_005257312.2:c.4543G>A (ITGB4)	XP_005257369.1:p.Val1515Met
XM_006721866.2:c.5017G>A (ITGB4)	XP_006721929.1:p.Val1673Met
XM_006721867.2:c.4858G>A (ITGB4)	XP_006721930.1:p.Val1620Met
XM_006721868.2:c.4807G>A (ITGB4)	XP_006721931.1:p.Val1603Met
XM_006721870.2:c.4648G>A (ITGB4)	XP_006721933.1:p.Val1550Met
XM_011524751.1:c.4708G>A (ITGB4)	XP_011523053.1:p.Val1570Met
XM_011524752.1:c.2857G>A (ITGB4)	XP_011523054.1:p.Val953Met
NM_000213.4:c.4753G>A (ITGB4)	NP_000204.3:p.Val1585Met
NM_001005731.2:c.4543G>A (ITGB4)	NP_001005731.1:p.Val1515Met
NM_001321123.1:c.4543G>A (ITGB4)	NP_001308052.1:p.Val1515Met
XM_005257311.4:c.4912G>A (ITGB4)	XP_005257368.1:p.Val1638Met
XM_006721866.3:c.5017G>A (ITGB4)	XP_006721929.1:p.Val1673Met
XM_006721867.3:c.4858G>A (ITGB4)	XP_006721930.1:p.Val1620Met
XM_006721868.3:c.4807G>A (ITGB4)	XP_006721931.1:p.Val1603Met
XM_006721870.3:c.4648G>A (ITGB4)	XP_006721933.1:p.Val1550Met
XM_011524751.2:c.4708G>A (ITGB4)	XP_011523053.1:p.Val1570Met
XM_011524752.2:c.2857G>A (ITGB4)	XP_011523054.1:p.Val953Met
NM_000213.5:c.4753G>A (ITGB4) MANE Select	NP_000204.3:p.Val1585Met
NM_001005731.3:c.4543G>A (ITGB4)	NP_001005731.1:p.Val1515Met
NM_001321123.2:c.4543G>A (ITGB4)	NP_001308052.1:p.Val1515Met
NM_001381985.1:c.*22+1561C>T (GALK1)	NP_001368914.1:n.*22+1561C>T