Canonical Allele Identifier: CA8770525

Gene: ITGB4 GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75757210G>A , CM000679.2:g.75757210G>A	GRCh38
NC_000017.10:g.73753291G>A , CM000679.1:g.73753291G>A	GRCh37
NC_000017.9:g.71264886G>A	NCBI36
NG_007372.1:g.40776G>A
NG_008079.1:g.12990C>T
NG_008079.2:g.12990C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000213.5:c.5229G>A (ITGB4) MANE Select	NP_000204.3:p.Pro1743=
ENST00000200181.8:c.5229G>A (ITGB4) MANE Select	ENSP00000200181.3:p.Pro1743=
NM_000213.3:c.5229G>A (ITGB4)	NP_000204.3:p.Pro1743=
NM_000213.4:c.5229G>A (ITGB4)	NP_000204.3:p.Pro1743=
NM_001005619.1:c.5178G>A (ITGB4)	NP_001005619.1:p.Pro1726=
NM_001005731.1:c.5019G>A (ITGB4)	NP_001005731.1:p.Pro1673=
NM_001005731.2:c.5019G>A (ITGB4)	NP_001005731.1:p.Pro1673=
NM_001005731.3:c.5019G>A (ITGB4)	NP_001005731.1:p.Pro1673=
NM_001321123.1:c.5019G>A (ITGB4)	NP_001308052.1:p.Pro1673=
NM_001321123.2:c.5019G>A (ITGB4)	NP_001308052.1:p.Pro1673=
NM_001381985.1:c.*22+824C>T (GALK1)	NP_001368914.1:n.*22+824C>T
ENST00000200181.7:c.5229G>A (ITGB4)	ENSP00000200181.3:p.Pro1743=
ENST00000225614.6:c.*22+824C>T (GALK1)	ENSP00000225614.1:n.*22+824C>T
ENST00000449880.6:c.5178G>A (ITGB4)	ENSP00000400217.2:p.Pro1726=
ENST00000449880.7:c.5178G>A (ITGB4)	ENSP00000400217.2:p.Pro1726=
ENST00000450894.7:c.5019G>A (ITGB4)	ENSP00000405536.3:p.Pro1673=
ENST00000578318.1:c.80G>A (ITGB4)
ENST00000579662.5:c.5019G>A (ITGB4)	ENSP00000463651.1:p.Pro1673=
ENST00000582629.1:c.266-416G>A (ITGB4)	ENSP00000463788.1:n.266-416G>A
ENST00000589643.1:n.254+824C>T (GALK1)
XM_005257309.2:c.5388G>A (ITGB4)	XP_005257366.1:p.Pro1796=
XM_005257311.3:c.5388G>A (ITGB4)	XP_005257368.1:p.Pro1796=
XM_005257311.4:c.5388G>A (ITGB4)	XP_005257368.1:p.Pro1796=
XM_005257312.2:c.5019G>A (ITGB4)	XP_005257369.1:p.Pro1673=
XM_006721866.2:c.5493G>A (ITGB4)	XP_006721929.1:p.Pro1831=
XM_006721866.3:c.5493G>A (ITGB4)	XP_006721929.1:p.Pro1831=
XM_006721867.2:c.5334G>A (ITGB4)	XP_006721930.1:p.Pro1778=
XM_006721867.3:c.5334G>A (ITGB4)	XP_006721930.1:p.Pro1778=
XM_006721868.2:c.5283G>A (ITGB4)	XP_006721931.1:p.Pro1761=
XM_006721868.3:c.5283G>A (ITGB4)	XP_006721931.1:p.Pro1761=
XM_006721870.2:c.5124G>A (ITGB4)	XP_006721933.1:p.Pro1708=
XM_006721870.3:c.5124G>A (ITGB4)	XP_006721933.1:p.Pro1708=
XM_011524751.1:c.5184G>A (ITGB4)	XP_011523053.1:p.Pro1728=
XM_011524751.2:c.5184G>A (ITGB4)	XP_011523053.1:p.Pro1728=
XM_011524752.1:c.3333G>A (ITGB4)	XP_011523054.1:p.Pro1111=
XM_011524752.2:c.3333G>A (ITGB4)	XP_011523054.1:p.Pro1111=