Canonical Allele Identifier: CA400213907

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270042C>G (hg19) ; chr17:g.50192681C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192681C>G , CM000679.2:g.50192681C>G	GRCh38
NC_000017.10:g.48270042C>G , CM000679.1:g.48270042C>G	GRCh37
NC_000017.9:g.45625041C>G	NCBI36
NG_007400.1:g.13959G>C , LRG_1:g.13959G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1888G>C MANE Select	ENSP00000225964.6:p.Glu630Gln
ENST00000225964.9:c.1888G>C	ENSP00000225964.5:p.Glu630Gln
ENST00000476387.1:n.237G>C
NM_000088.3:c.1888G>C , LRG_1t1:c.1888G>C	NP_000079.2:p.Glu630Gln
XM_005257058.3:c.1888G>C	XP_005257115.2:p.Glu630Gln
XM_005257059.3:c.970G>C	XP_005257116.2:p.Glu324Gln
XM_011524341.1:c.1690G>C	XP_011522643.1:p.Glu564Gln
XM_005257058.4:c.1888G>C	XP_005257115.2:p.Glu630Gln
XM_005257059.4:c.970G>C	XP_005257116.2:p.Glu324Gln
NM_000088.4:c.1888G>C MANE Select	NP_000079.2:p.Glu630Gln