Canonical Allele Identifier: CA291550411

Gene: COL1A1

Linked Data

• dbSNP Id: rs72667015
• MyVariant Identifiers: chr17:g.48276668_48276669insT (hg19) ; chr17:g.50199307_50199308insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199307_50199308insT , CM000679.2:g.50199307_50199308insT	GRCh38
NC_000017.10:g.48276668_48276669insT , CM000679.1:g.48276668_48276669insT	GRCh37
NC_000017.9:g.45631667_45631668insT	NCBI36
NG_007400.1:g.7332_7333insA , LRG_1:g.7332_7333insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.389_390insA MANE Select	ENSP00000225964.6:p.Arg131ProfsTer?
ENST00000225964.9:c.389_390insA	ENSP00000225964.5:p.Arg131ProfsTer?
ENST00000474644.1:n.610_611insA
ENST00000507689.1:c.443_444insA	ENSP00000460459.1:p.Arg149ProfsTer?
NM_000088.3:c.389_390insA , LRG_1t1:c.389_390insA	NP_000079.2:p.Arg131ProfsTer?
XM_005257058.3:c.389_390insA	XP_005257115.2:p.Arg131ProfsTer?
XM_005257059.3:c.389_390insA	XP_005257116.2:p.Arg131ProfsTer?
XM_011524341.1:c.389_390insA	XP_011522643.1:p.Arg131ProfsTer?
XM_005257058.4:c.389_390insA	XP_005257115.2:p.Arg131ProfsTer?
XM_005257059.4:c.389_390insA	XP_005257116.2:p.Arg131ProfsTer?
NM_000088.4:c.389_390insA MANE Select	NP_000079.2:p.Arg131ProfsTer?