Canonical Allele Identifier: CA401094903

Gene: ITGB4 GALK1

Linked Data

• MyVariant Identifiers: chr17:g.73753502C>A (hg19) ; chr17:g.75757421C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75757421C>A , CM000679.2:g.75757421C>A	GRCh38
NC_000017.10:g.73753502C>A , CM000679.1:g.73753502C>A	GRCh37
NC_000017.9:g.71265097C>A	NCBI36
NG_007372.1:g.40987C>A
NG_008079.1:g.12779G>T
NG_008079.2:g.12779G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.5284C>A (ITGB4)	ENSP00000400217.2:p.Leu1762Met
ENST00000200181.8:c.5335C>A (ITGB4) MANE Select	ENSP00000200181.3:p.Leu1779Met
ENST00000200181.7:c.5335C>A (ITGB4)	ENSP00000200181.3:p.Leu1779Met
ENST00000225614.6:c.*22+613G>T (GALK1)	ENSP00000225614.1:n.*22+613G>T
ENST00000449880.6:c.5284C>A (ITGB4)	ENSP00000400217.2:p.Leu1762Met
ENST00000450894.7:c.5125C>A (ITGB4)	ENSP00000405536.3:p.Leu1709Met
ENST00000578318.1:c.291C>A (ITGB4)
ENST00000579662.5:c.5125C>A (ITGB4)	ENSP00000463651.1:p.Leu1709Met
ENST00000582629.1:c.266-205C>A (ITGB4)	ENSP00000463788.1:n.266-205C>A
ENST00000589643.1:n.254+613G>T (GALK1)
NM_000213.3:c.5335C>A (ITGB4)	NP_000204.3:p.Leu1779Met
NM_001005619.1:c.5284C>A (ITGB4)	NP_001005619.1:p.Leu1762Met
NM_001005731.1:c.5125C>A (ITGB4)	NP_001005731.1:p.Leu1709Met
XM_005257309.2:c.5494C>A (ITGB4)	XP_005257366.1:p.Leu1832Met
XM_005257311.3:c.5494C>A (ITGB4)	XP_005257368.1:p.Leu1832Met
XM_005257312.2:c.5125C>A (ITGB4)	XP_005257369.1:p.Leu1709Met
XM_006721866.2:c.5599C>A (ITGB4)	XP_006721929.1:p.Leu1867Met
XM_006721867.2:c.5440C>A (ITGB4)	XP_006721930.1:p.Leu1814Met
XM_006721868.2:c.5389C>A (ITGB4)	XP_006721931.1:p.Leu1797Met
XM_006721870.2:c.5230C>A (ITGB4)	XP_006721933.1:p.Leu1744Met
XM_011524751.1:c.5290C>A (ITGB4)	XP_011523053.1:p.Leu1764Met
XM_011524752.1:c.3439C>A (ITGB4)	XP_011523054.1:p.Leu1147Met
NM_000213.4:c.5335C>A (ITGB4)	NP_000204.3:p.Leu1779Met
NM_001005731.2:c.5125C>A (ITGB4)	NP_001005731.1:p.Leu1709Met
NM_001321123.1:c.5125C>A (ITGB4)	NP_001308052.1:p.Leu1709Met
XM_005257311.4:c.5494C>A (ITGB4)	XP_005257368.1:p.Leu1832Met
XM_006721866.3:c.5599C>A (ITGB4)	XP_006721929.1:p.Leu1867Met
XM_006721867.3:c.5440C>A (ITGB4)	XP_006721930.1:p.Leu1814Met
XM_006721868.3:c.5389C>A (ITGB4)	XP_006721931.1:p.Leu1797Met
XM_006721870.3:c.5230C>A (ITGB4)	XP_006721933.1:p.Leu1744Met
XM_011524751.2:c.5290C>A (ITGB4)	XP_011523053.1:p.Leu1764Met
XM_011524752.2:c.3439C>A (ITGB4)	XP_011523054.1:p.Leu1147Met
NM_000213.5:c.5335C>A (ITGB4) MANE Select	NP_000204.3:p.Leu1779Met
NM_001005731.3:c.5125C>A (ITGB4)	NP_001005731.1:p.Leu1709Met
NM_001321123.2:c.5125C>A (ITGB4)	NP_001308052.1:p.Leu1709Met
NM_001381985.1:c.*22+613G>T (GALK1)	NP_001368914.1:n.*22+613G>T