Canonical Allele Identifier: CA400227495

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 521329
• ClinVar RCV Id: RCV000624717
• dbSNP Id: rs1555575085
• MyVariant Identifiers: chr17:g.48276670C>A (hg19) ; chr17:g.50199309C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199309C>A , CM000679.2:g.50199309C>A	GRCh38
NC_000017.10:g.48276670C>A , CM000679.1:g.48276670C>A	GRCh37
NC_000017.9:g.45631669C>A	NCBI36
NG_007400.1:g.7331G>T , LRG_1:g.7331G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.388G>T MANE Select	ENSP00000225964.6:p.Gly130Cys
ENST00000225964.9:c.388G>T	ENSP00000225964.5:p.Gly130Cys
ENST00000474644.1:n.609G>T
ENST00000507689.1:c.442G>T	ENSP00000460459.1:p.Gly148Cys
NM_000088.3:c.388G>T , LRG_1t1:c.388G>T	NP_000079.2:p.Gly130Cys
XM_005257058.3:c.388G>T	XP_005257115.2:p.Gly130Cys
XM_005257059.3:c.388G>T	XP_005257116.2:p.Gly130Cys
XM_011524341.1:c.388G>T	XP_011522643.1:p.Gly130Cys
XM_005257058.4:c.388G>T	XP_005257115.2:p.Gly130Cys
XM_005257059.4:c.388G>T	XP_005257116.2:p.Gly130Cys
NM_000088.4:c.388G>T MANE Select	NP_000079.2:p.Gly130Cys