Canonical Allele Identifier: CA400200679

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48265911T>A (hg19) ; chr17:g.50188550T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188550T>A , CM000679.2:g.50188550T>A	GRCh38
NC_000017.10:g.48265911T>A , CM000679.1:g.48265911T>A	GRCh37
NC_000017.9:g.45620910T>A	NCBI36
NG_007400.1:g.18090A>T , LRG_1:g.18090A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3187A>T MANE Select	ENSP00000225964.6:p.Ser1063Cys
ENST00000225964.9:c.3187A>T	ENSP00000225964.5:p.Ser1063Cys
ENST00000486572.1:n.5A>T
ENST00000511732.1:n.131A>T
NM_000088.3:c.3187A>T , LRG_1t1:c.3187A>T	NP_000079.2:p.Ser1063Cys
XM_005257058.3:c.2917A>T	XP_005257115.2:p.Ser973Cys
XM_005257059.3:c.2269A>T	XP_005257116.2:p.Ser757Cys
XM_011524341.1:c.2989A>T	XP_011522643.1:p.Ser997Cys
XM_005257058.4:c.2917A>T	XP_005257115.2:p.Ser973Cys
XM_005257059.4:c.2269A>T	XP_005257116.2:p.Ser757Cys
NM_000088.4:c.3187A>T MANE Select	NP_000079.2:p.Ser1063Cys