Canonical Allele Identifier: CA400213799

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270028T>G (hg19) ; chr17:g.50192667T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192667T>G , CM000679.2:g.50192667T>G	GRCh38
NC_000017.10:g.48270028T>G , CM000679.1:g.48270028T>G	GRCh37
NC_000017.9:g.45625027T>G	NCBI36
NG_007400.1:g.13973A>C , LRG_1:g.13973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1902A>C MANE Select	ENSP00000225964.6:p.Gln634His
ENST00000225964.9:c.1902A>C	ENSP00000225964.5:p.Gln634His
ENST00000476387.1:n.251A>C
NM_000088.3:c.1902A>C , LRG_1t1:c.1902A>C	NP_000079.2:p.Gln634His
XM_005257058.3:c.1902A>C	XP_005257115.2:p.Gln634His
XM_005257059.3:c.984A>C	XP_005257116.2:p.Gln328His
XM_011524341.1:c.1704A>C	XP_011522643.1:p.Gln568His
XM_005257058.4:c.1902A>C	XP_005257115.2:p.Gln634His
XM_005257059.4:c.984A>C	XP_005257116.2:p.Gln328His
NM_000088.4:c.1902A>C MANE Select	NP_000079.2:p.Gln634His