Canonical Allele Identifier: CA500991509

Gene: COL1A1

Linked Data

• dbSNP Id: rs1555571589
• MyVariant Identifiers: chr17:g.48263142G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185781G>A , CM000679.2:g.50185781G>A	GRCh38
NC_000017.10:g.48263142G>A , CM000679.1:g.48263142G>A	GRCh37
NC_000017.9:g.45618141G>A	NCBI36
NG_007400.1:g.20859C>T , LRG_1:g.20859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4245C>T MANE Select	ENSP00000225964.6:p.Cys1415=
ENST00000225964.9:c.4245C>T	ENSP00000225964.5:p.Cys1415=
NM_000088.3:c.4245C>T , LRG_1t1:c.4245C>T	NP_000079.2:p.Cys1415=
XM_005257058.3:c.3975C>T	XP_005257115.2:p.Cys1325=
XM_005257059.3:c.3327C>T	XP_005257116.2:p.Cys1109=
XM_011524341.1:c.4047C>T	XP_011522643.1:p.Cys1349=
XM_005257058.4:c.3975C>T	XP_005257115.2:p.Cys1325=
XM_005257059.4:c.3327C>T	XP_005257116.2:p.Cys1109=
NM_000088.4:c.4245C>T MANE Select	NP_000079.2:p.Cys1415=