Canonical Allele Identifier: CA400213706

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270014G>C (hg19) ; chr17:g.50192653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192653G>C , CM000679.2:g.50192653G>C	GRCh38
NC_000017.10:g.48270014G>C , CM000679.1:g.48270014G>C	GRCh37
NC_000017.9:g.45625013G>C	NCBI36
NG_007400.1:g.13987C>G , LRG_1:g.13987C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1916C>G MANE Select	ENSP00000225964.6:p.Ser639Cys
ENST00000225964.9:c.1916C>G	ENSP00000225964.5:p.Ser639Cys
ENST00000476387.1:n.265C>G
NM_000088.3:c.1916C>G , LRG_1t1:c.1916C>G	NP_000079.2:p.Ser639Cys
XM_005257058.3:c.1916C>G	XP_005257115.2:p.Ser639Cys
XM_005257059.3:c.998C>G	XP_005257116.2:p.Ser333Cys
XM_011524341.1:c.1718C>G	XP_011522643.1:p.Ser573Cys
XM_005257058.4:c.1916C>G	XP_005257115.2:p.Ser639Cys
XM_005257059.4:c.998C>G	XP_005257116.2:p.Ser333Cys
NM_000088.4:c.1916C>G MANE Select	NP_000079.2:p.Ser639Cys