Canonical Allele Identifier: CA400221728

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50196341-T-A
• MyVariant Identifiers: chr17:g.48273702T>A (hg19) ; chr17:g.50196341T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196341T>A , CM000679.2:g.50196341T>A	GRCh38
NC_000017.10:g.48273702T>A , CM000679.1:g.48273702T>A	GRCh37
NC_000017.9:g.45628701T>A	NCBI36
NG_007400.1:g.10299A>T , LRG_1:g.10299A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.930A>T MANE Select	ENSP00000225964.6:p.Arg310Ser
ENST00000225964.9:c.930A>T	ENSP00000225964.5:p.Arg310Ser
ENST00000485870.1:n.255A>T
NM_000088.3:c.930A>T , LRG_1t1:c.930A>T	NP_000079.2:p.Arg310Ser
XM_005257058.3:c.930A>T	XP_005257115.2:p.Arg310Ser
XM_005257059.3:c.930A>T	XP_005257116.2:p.Arg310Ser
XM_011524341.1:c.930A>T	XP_011522643.1:p.Arg310Ser
XM_005257058.4:c.930A>T	XP_005257115.2:p.Arg310Ser
XM_005257059.4:c.930A>T	XP_005257116.2:p.Arg310Ser
NM_000088.4:c.930A>T MANE Select	NP_000079.2:p.Arg310Ser