Canonical Allele Identifier: CA400193430

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186394T>A , CM000679.2:g.50186394T>A	GRCh38
NC_000017.10:g.48263755T>A , CM000679.1:g.48263755T>A	GRCh37
NC_000017.9:g.45618754T>A	NCBI36
NG_007400.1:g.20246A>T , LRG_1:g.20246A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3928A>T MANE Select	NP_000079.2:p.Lys1310Ter
ENST00000225964.10:c.3928A>T MANE Select	ENSP00000225964.6:p.Lys1310Ter
NM_000088.3:c.3928A>T , LRG_1t1:c.3928A>T	NP_000079.2:p.Lys1310Ter
ENST00000225964.9:c.3928A>T	ENSP00000225964.5:p.Lys1310Ter
ENST00000510710.3:n.597A>T
XM_005257058.3:c.3658A>T	XP_005257115.2:p.Lys1220Ter
XM_005257058.4:c.3658A>T	XP_005257115.2:p.Lys1220Ter
XM_005257059.3:c.3010A>T	XP_005257116.2:p.Lys1004Ter
XM_005257059.4:c.3010A>T	XP_005257116.2:p.Lys1004Ter
XM_011524341.1:c.3730A>T	XP_011522643.1:p.Lys1244Ter