Canonical Allele Identifier: CA2499224715

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1256189
• ClinVar RCV Id: RCV001663531
• dbSNP Id: rs2144546004

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188626_50188635dup , CM000679.2:g.50188626_50188635dup	GRCh38
NC_000017.10:g.48265987_48265996dup , CM000679.1:g.48265987_48265996dup	GRCh37
NC_000017.9:g.45620986_45620995dup	NCBI36
NG_007400.1:g.18005_18014dup , LRG_1:g.18005_18014dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3102_3111dup MANE Select	ENSP00000225964.6:p.Glu1038Ter
ENST00000225964.9:c.3102_3111dup	ENSP00000225964.5:p.Glu1038Ter
ENST00000511732.1:n.46_55dup
NM_000088.3:c.3102_3111dup , LRG_1t1:c.3102_3111dup	NP_000079.2:p.Glu1038Ter
XM_005257058.3:c.2832_2841dup	XP_005257115.2:p.Glu948Ter
XM_005257059.3:c.2184_2193dup	XP_005257116.2:p.Glu732Ter
XM_011524341.1:c.2904_2913dup	XP_011522643.1:p.Glu972Ter
XM_005257058.4:c.2832_2841dup	XP_005257115.2:p.Glu948Ter
XM_005257059.4:c.2184_2193dup	XP_005257116.2:p.Glu732Ter
NM_000088.4:c.3102_3111dup MANE Select	NP_000079.2:p.Glu1038Ter