Canonical Allele Identifier: CA400213849

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270033C>A (hg19) ; chr17:g.50192672C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192672C>A , CM000679.2:g.50192672C>A	GRCh38
NC_000017.10:g.48270033C>A , CM000679.1:g.48270033C>A	GRCh37
NC_000017.9:g.45625032C>A	NCBI36
NG_007400.1:g.13968G>T , LRG_1:g.13968G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1897G>T MANE Select	ENSP00000225964.6:p.Glu633Ter
ENST00000225964.9:c.1897G>T	ENSP00000225964.5:p.Glu633Ter
ENST00000476387.1:n.246G>T
NM_000088.3:c.1897G>T , LRG_1t1:c.1897G>T	NP_000079.2:p.Glu633Ter
XM_005257058.3:c.1897G>T	XP_005257115.2:p.Glu633Ter
XM_005257059.3:c.979G>T	XP_005257116.2:p.Glu327Ter
XM_011524341.1:c.1699G>T	XP_011522643.1:p.Glu567Ter
XM_005257058.4:c.1897G>T	XP_005257115.2:p.Glu633Ter
XM_005257059.4:c.979G>T	XP_005257116.2:p.Glu327Ter
NM_000088.4:c.1897G>T MANE Select	NP_000079.2:p.Glu633Ter