Canonical Allele Identifier: CA772790292

Gene: COL1A1

Linked Data

• dbSNP Id: rs1430090234
• MyVariant Identifiers: chr17:g.48270675del (hg19) ; chr17:g.50193314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193314del , CM000679.2:g.50193314del	GRCh38
NC_000017.10:g.48270675del , CM000679.1:g.48270675del	GRCh37
NC_000017.9:g.45625674del	NCBI36
NG_007400.1:g.13326del , LRG_1:g.13326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-267del MANE Select	ENSP00000225964.6:n.1768-267del
ENST00000225964.9:c.1768-267del	ENSP00000225964.5:n.1768-267del
ENST00000476387.1:n.117-267del
NM_000088.3:c.1768-267del , LRG_1t1:c.1768-267del	NP_000079.2:n.1768-267del
XM_005257058.3:c.1768-267del	XP_005257115.2:n.1768-267del
XM_005257059.3:c.958-621del	XP_005257116.2:n.958-621del
XM_011524341.1:c.1570-267del	XP_011522643.1:n.1570-267del
XM_005257058.4:c.1768-267del	XP_005257115.2:n.1768-267del
XM_005257059.4:c.958-621del	XP_005257116.2:n.958-621del
NM_000088.4:c.1768-267del MANE Select	NP_000079.2:n.1768-267del