Canonical Allele Identifier: CA400215507

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48271384C>T (hg19) ; chr17:g.50194023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194023C>T , CM000679.2:g.50194023C>T	GRCh38
NC_000017.10:g.48271384C>T , CM000679.1:g.48271384C>T	GRCh37
NC_000017.9:g.45626383C>T	NCBI36
NG_007400.1:g.12617G>A , LRG_1:g.12617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1687G>A MANE Select	ENSP00000225964.6:p.Gly563Ser
ENST00000225964.9:c.1687G>A	ENSP00000225964.5:p.Gly563Ser
ENST00000463440.1:n.77G>A
ENST00000471344.1:n.719G>A
ENST00000476387.1:n.36G>A
NM_000088.3:c.1687G>A , LRG_1t1:c.1687G>A	NP_000079.2:p.Gly563Ser
XM_005257058.3:c.1687G>A	XP_005257115.2:p.Gly563Ser
XM_005257059.3:c.958-1330G>A	XP_005257116.2:n.958-1330G>A
XM_011524341.1:c.1489G>A	XP_011522643.1:p.Gly497Ser
XM_005257058.4:c.1687G>A	XP_005257115.2:p.Gly563Ser
XM_005257059.4:c.958-1330G>A	XP_005257116.2:n.958-1330G>A
NM_000088.4:c.1687G>A MANE Select	NP_000079.2:p.Gly563Ser