Canonical Allele Identifier: CA400224007

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48274426T>A (hg19) ; chr17:g.50197065T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197065T>A , CM000679.2:g.50197065T>A	GRCh38
NC_000017.10:g.48274426T>A , CM000679.1:g.48274426T>A	GRCh37
NC_000017.9:g.45629425T>A	NCBI36
NG_007400.1:g.9575A>T , LRG_1:g.9575A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.751-2A>T MANE Select	ENSP00000225964.6:n.751-2A>T
ENST00000225964.9:c.751-2A>T	ENSP00000225964.5:n.751-2A>T
ENST00000495677.1:n.478-2A>T
NM_000088.3:c.751-2A>T , LRG_1t1:c.751-2A>T	NP_000079.2:n.751-2A>T
XM_005257058.3:c.751-2A>T	XP_005257115.2:n.751-2A>T
XM_005257059.3:c.751-2A>T	XP_005257116.2:n.751-2A>T
XM_011524341.1:c.751-2A>T	XP_011522643.1:n.751-2A>T
XM_005257058.4:c.751-2A>T	XP_005257115.2:n.751-2A>T
XM_005257059.4:c.751-2A>T	XP_005257116.2:n.751-2A>T
NM_000088.4:c.751-2A>T MANE Select	NP_000079.2:n.751-2A>T