Canonical Allele Identifier: CA400192112

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263270T>A (hg19) ; chr17:g.50185909T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185909T>A , CM000679.2:g.50185909T>A	GRCh38
NC_000017.10:g.48263270T>A , CM000679.1:g.48263270T>A	GRCh37
NC_000017.9:g.45618269T>A	NCBI36
NG_007400.1:g.20731A>T , LRG_1:g.20731A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4117A>T MANE Select	ENSP00000225964.6:p.Ser1373Cys
ENST00000225964.9:c.4117A>T	ENSP00000225964.5:p.Ser1373Cys
ENST00000510710.3:n.1082A>T
NM_000088.3:c.4117A>T , LRG_1t1:c.4117A>T	NP_000079.2:p.Ser1373Cys
XM_005257058.3:c.3847A>T	XP_005257115.2:p.Ser1283Cys
XM_005257059.3:c.3199A>T	XP_005257116.2:p.Ser1067Cys
XM_011524341.1:c.3919A>T	XP_011522643.1:p.Ser1307Cys
XM_005257058.4:c.3847A>T	XP_005257115.2:p.Ser1283Cys
XM_005257059.4:c.3199A>T	XP_005257116.2:p.Ser1067Cys
NM_000088.4:c.4117A>T MANE Select	NP_000079.2:p.Ser1373Cys