Canonical Allele Identifier: CA400215378

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 811430
• ClinVar RCV Id: RCV001001278
• dbSNP Id: rs1598295066
• MyVariant Identifiers: chr17:g.48271356C>G (hg19) ; chr17:g.50193995C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193995C>G , CM000679.2:g.50193995C>G	GRCh38
NC_000017.10:g.48271356C>G , CM000679.1:g.48271356C>G	GRCh37
NC_000017.9:g.45626355C>G	NCBI36
NG_007400.1:g.12645G>C , LRG_1:g.12645G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1715G>C MANE Select	ENSP00000225964.6:p.Gly572Ala
ENST00000225964.9:c.1715G>C	ENSP00000225964.5:p.Gly572Ala
ENST00000463440.1:n.105G>C
ENST00000471344.1:n.747G>C
ENST00000476387.1:n.64G>C
NM_000088.3:c.1715G>C , LRG_1t1:c.1715G>C	NP_000079.2:p.Gly572Ala
XM_005257058.3:c.1715G>C	XP_005257115.2:p.Gly572Ala
XM_005257059.3:c.958-1302G>C	XP_005257116.2:n.958-1302G>C
XM_011524341.1:c.1517G>C	XP_011522643.1:p.Gly506Ala
XM_005257058.4:c.1715G>C	XP_005257115.2:p.Gly572Ala
XM_005257059.4:c.958-1302G>C	XP_005257116.2:n.958-1302G>C
NM_000088.4:c.1715G>C MANE Select	NP_000079.2:p.Gly572Ala